Author: "Céline Dupont" - Searchworks@Jio Institute Digital Library Search Results

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71 results on '"Céline Dupont"'

1. Nature of the Ba 4d Splitting in BaTiO3 Unraveled by a Combined Experimental and Theoretical Study

Author: Pierre-Marie Deleuze, Hélène Magnan, Antoine Barbier, Zheshen Li, Alberto Verdini, Luca Floreano, Bruno Domenichini, Céline Dupont, Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB), Université de Technologie de Belfort-Montbeliard (UTBM)-Université de Bourgogne (UB)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Electronique et nanoPhotonique Organique (LEPO), Service de physique de l'état condensé (SPEC - UMR3680), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut Rayonnement Matière de Saclay (IRAMIS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Centre for Storage Ring Facilities [Aarhus] (ISA), Aarhus University [Aarhus], Laboratorio Nazionale TASC (TASC), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR)-INFM, ANR-17-EURE-0002,EIPHI,Ingénierie et Innovation par les sciences physiques, les savoir-faire technologiques et l'interdisciplinarité(2017), ANR-15-CE05-0014,PHOTO-POT,Photoelectrolyse de l'eau assistée par un potentiel interne(2015), and European Project: 730872,CALIPSOplus
Subjects: [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, General Energy, Barium, Electrical energy, Oxides, Physical and Theoretical Chemistry, Layers, Diffraction, Surfaces, Coatings and Films, Electronic, Optical and Magnetic Materials
Abstract: International audience; In this paper, synchrotron radiation photoemission techniques are used to unravel the pending nature of the two Ba 4d components, also observed on Ba 3d lines, and commonly named Ba(α) and Ba(β). Investigations were carried out on the (001) surface of epitaxial very thin (≤ 20 nm) films combined with DFT calculations. Photoelectron diffraction experiments reveal different behaviors for Ba(α) and Ba(β) components. While six well defined diffraction features corresponding to the BaTiO$_3$ bulk structure are observed for the Ba(α) component, no feature really appears in the diffraction pattern of Ba(β). This observations reveal the absence of forward scattering processes, hence this component comes mostly from surface BaO plane. Supporting these results, DFT calculations demonstrate a shift to lower binding energy (BE) only for the Ba 4d peak from the topmost BaO layer with respect to the photoelectron peak stemming from bulk layers. Hence, only one peak (the Ba(α) one) should be observed for a sample with a complete TiO$_2$ termination. This hypothesis is supported by photoemission measurements carried out at low photon energy in grazing angle emission, in order to enhance the signal from topmost layers with respect to the bulk. For each sample, the Ba(β)/Ba(α) intensity ratio is well reproduced by a model where the Ba(β) signal is only coming from the topmost surface BaO plane.
Published: 2022

2. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Author: Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis‐Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth‐Bolard, Carole Goumy, Sylvia Redon, Jean‐Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne‐Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier de Versailles André Mignot (CHV), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], Hospices Civils de Lyon (HCL), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Service de Cytogénétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Unité de Génétique Chromosomique [Montpellier], Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée [Montpellier], Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre hospitalier universitaire de Nantes (CHU Nantes), AP-HP Hôpital universitaire Robert-Debré [Paris], CHI Poissy-Saint-Germain, Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), CHU Amiens-Picardie, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Libourne, Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de pathologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Universitaire de Bordeaux (CHU de Bordeaux), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), and None
Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Obstetrics and Gynecology, Genetics (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.Methods: We retrospectively recruited unrelated cases with 7q11.23 deletion, known as Williams-Beuren syndrome (WBS), or 7q11.23 duplication who had prenatal ultrasound findings. We collected laboratory and clinical data, fetal ultrasound, cardiac ultrasound and fetal autopsy reports from 18 prenatal diagnostic centers throughout France.Results: 40 fetuses with WBS were collected and the most common features were intra-uterine growth retardation (IUGR) (70.0%, 28/40), cardiovascular defects (30.0%, 12/40), polyhydramnios (17.5%, 7/40) and protruding tongue (15.0%, 6/40). Fetal autopsy reports were available for 11 cases and were compared with ultrasound prenatal features. Four cases of fetuses with 7q11.23 microduplication were collected and prenatal ultrasound signs were variable and often isolated.Conclusion: This work strengthens the fact that 7q11.23 CNVs are associated with a broad spectrum of antenatal presentations. IUGR and cardiovascular defects were the most frequent ultrasound signs. By reporting the biggest series of antenatal WBS, we aim to better delineate distinctive signs in fetuses with 7q11.23 CNVs.
Published: 2023

3. Epitaxial growth of maghemite (001) and (111) on platinum: An ab-initio study

Author: Amit Sahu, Julien Parize, and Céline Dupont
Subjects: General Physics and Astronomy, Surfaces and Interfaces, General Chemistry, Condensed Matter Physics, Surfaces, Coatings and Films
Published: 2023

4. DST Variants are Responsible for Neurogenic Arthrogryposis Multiplex Congenita Confirming the Large Clinical Spectrum of Type VI Hereditary Sensory Autonomic Neuropathy

Author: Yline Capri, Lucas Bourmance, Céline Dupont, Marie-Hélène Saint-Frison, Sarah Grotto, Yvon Chitrit, Annie Laquerrière, Fabien Guimiot, and Judith Melki
Published: 2022

5. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

Author: Marion Lesieur‐Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon, Céline Dupont, Anne‐Claude Tabet, Mathilde Barrois, Aurélie Coussement, Laurence Loeuillet, Eve Mousty, Vuthy Ea, Amal Assal, Laura Mary, Sylvie Jaillard, Claire Beneteau, Claudine Le Vaillant, Charles Coutton, Françoise Devillard, Carole Goumy, Amélie Delabaere, Sylvia Redon, Yves Laurent, Audrey Lamouroux, Jérôme Massardier, Catherine Turleau, Damien Sanlaville, Vincent Cantagrel, Pascale Sonigo, François Vialard, Laurent J. Salomon, Valérie Malan, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), AP-HP Hôpital universitaire Robert-Debré [Paris], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Maternité Port-Royal [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHI Poissy-Saint-Germain, CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre hospitalier universitaire de Nantes (CHU Nantes), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire [Grenoble] (CHU), Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Groupe Hospitalier Bretagne Sud (GHBS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), École nationale vétérinaire - Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Université de Brest (UBO), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Cité (UPCité), Service Obstétrique [CHU Clermont-Ferrand], Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Thérapie guidée par l'image (TGI), and SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)-SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)
Subjects: Adult, phenotype mimicking heterozygous, INTELLECTUAL DISABILITY, [SDV]Life Sciences [q-bio], Chromosome Disorders, Trisomy, LONG ARM, brain malformations, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, 03 medical and health sciences, Pregnancy, FETUSES, MICROARRAY ANALYSIS, Humans, pathogenic variants, Genetics (clinical), 030304 developmental biology, Retrospective Studies, 0303 health sciences, Virulence, DEVELOPMENTAL DELAY, ABNORMALITIES, 030305 genetics & heredity, Calcium-Binding Proteins, REARRANGEMENTS, Obstetrics and Gynecology, Membrane Proteins, deletions, 3. Good health, NOTCH, Phenotype, DIFFERENTIATION, Chromosomes, Human, Pair 6, Female, MENTAL-RETARDATION
Abstract: International audience; OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study aimed to further characterize the prenatal phenotype of this syndrome as well as to attempt to establish phenotype-genotype correlations. METHOD: We collected ultrasound findings from 22 fetuses diagnosed with a pure 6qter deletion. We reviewed the literature and compared our 22 cases with 14 fetuses previously reported as well as with patients with heterozygous DLL1 pathogenic variants. RESULTS: Brain structural alterations were observed in all fetuses. The most common findings (>70%) were cerebellar hypoplasia, ventriculomegaly, and corpus callosum abnormalities. Gyration abnormalities were observed in 46% of cases. Occasional findings included cerebral heterotopia, aqueductal stenosis, vertebral malformations, dysmorphic features, and kidney abnormalities. CONCLUSION: This is the first series of fetuses diagnosed with pure terminal 6q deletion. Based on our findings, we emphasize the prenatal sonographic anomalies, which may suggest the syndrome. Furthermore, this study highlights the importance of chromosomal microarray analysis to search for submicroscopic deletions of the 6q27 region involving the DLL1 gene in fetuses with these malformations.
Published: 2021

6. Author response for 'Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder'

Author: null Jonathan Lévy, null Guillaume Cogan, null Anna Maruani, null Arnaud Maillard, null Céline Dupont, null Séverine Drunat, null Myriam Rachid, null Paola Atzori, null Richard Delorme, null Sabatini Jeyarajah, null Bertrand Isidor, null Olivier Pichon, null Kamran Moradkhani, null Alain Verloes, and null Anne‐Claude Tabet
Published: 2021

7. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Author: Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), University Medical Center Groningen [Groningen] (UMCG), Centre Hospitalier Universitaire de Nice (CHU Nice), EFS, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Lille, Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Institut de génétique médicale, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre d'Investigation Clinique de Besançon (Inserm CIC 1431), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), This work has been generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]., Clinical Cognitive Neuropsychiatry Research Program (CCNP), PODEUR, Sophie, and Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC)
Subjects: Male, Microcephaly, [SDV]Life Sciences [q-bio], 6q16, 1 microdeletion, Inheritance Patterns, EPHA7, Haploinsufficiency, Biology, speech and language development, Neurodevelopmental disorder, Exome Sequencing, Genetics, medicine, Ephrin, Humans, Genetic Predisposition to Disease, microcephaly, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Comparative Genomic Hybridization, 6q16.1 microdeletion, Erythropoietin-producing hepatocellular (Eph) receptor, Receptor, EphA7, medicine.disease, Penetrance, Phenotype, neurodevelopmental disorder, Pedigree, [SDV] Life Sciences [q-bio], Neurodevelopmental Disorders, intellectual disability, Mutation, Chromosomes, Human, Pair 6, Female
Abstract: International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We report 12 additional patients from nine unrelated pedigrees with similar deletions. The deletions were inherited in nine out of 12 patients, suggesting variable expressivity and incomplete penetrance. Four patients had tiny deletions involving only EPHA7, suggesting a critical role of EPHA7 in a neurodevelopmental disability phenotype. We provide further evidence for EPHA7 deletion as a risk factor for neurodevelopmental disorder and delineate its clinical phenotype.
Published: 2021

8. Author response for 'EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder'

Author: Odile Boute, Lyse Ruaud, Aafke Engwerda, Anne-Claude Tabet, Lionel Van Maldergem, Patrick Callier, Bérénice Schell, Céline Dupont, Jessica Assoumani, Caroline Benech, Nathalie Marle, Nathalie Couque, Houda Karmous-Benailly, Jonathan Levy, Elise Boudry Labis, Mélanie Rama, Alain Verloes, Sylvia Redon, Myriam Rachid, Conny M. A. Ravenswaaij‐Arts, Laurence Faivre, Morgane Plutino, Paul Kuentz, and Hala Nasser
Subjects: Neurodevelopmental disorder, business.industry, medicine, EPHA7, medicine.disease, Haploinsufficiency, business, Neuroscience
Published: 2021

9. Functional Extrapolations to Tame Unbound Anions in Density-Functional Theory Calculations

Author: Céline Dupont, Nicola Marzari, Oliviero Andreussi, Francesco Nattino, Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire Carnot de Bourgogne [Dijon] (LICB), Université de Bourgogne (UB)-Université de Technologie de Belfort-Montbeliard (UTBM)-Centre National de la Recherche Scientifique (CNRS), Leiden Institute of Chemistry, Universiteit Leiden [Leiden], Theory and Simulation of Materials, Ecole Polytechnique Fédérale de Lausanne (EPFL), UF de Cytogénétique, and AP-HP Hôpital universitaire Robert-Debré [Paris]
Subjects: molecular-dynamics, force-field, Extrapolation, FOS: Physical sciences, Electron, 01 natural sciences, Force field (chemistry), Ion, Molecular dynamics, Delocalized electron, Physics - Chemical Physics, 0103 physical sciences, [CHIM]Chemical Sciences, Physical and Theoretical Chemistry, approximation, ComputingMilieux_MISCELLANEOUS, Chemical Physics (physics.chem-ph), Physics, Condensed Matter - Materials Science, electron-affinities, atoms, 010304 chemical physics, Materials Science (cond-mat.mtrl-sci), energies, Computational Physics (physics.comp-ph), Computer Science Applications, Computational physics, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, Embedding, Density functional theory, Physics - Computational Physics
Abstract: Standard flavors of density-functional theory (DFT) calculations are known to fail in describing anions, due to large self-interaction errors. The problem may be circumvented using localized basis sets of reduced size, leaving no variational flexibility for the extra electron to delocalize. Alternatively, a recent approach exploiting DFT evaluations of total energies on electronic densities optimized at the Hartree-Fock (HF) level has been reported, showing that the self-interaction-free HF densities are able to lead to an improved description of the additional electron, returning affinities in close agreement with the experiments. Nonetheless, such an approach can fail when the HF densities are too inaccurate. Here, an alternative approach is presented, in which an embedding environment is used to stabilize the anion in a bound configuration. Similar to the HF case, when computing total energies at the DFT level on these corrected densities, electron affinities in very good agreement with experiments can be recovered. The effect of the environment can be evaluated and removed by an extrapolation of the results to the limit of vanishing embedding. Apart from the definition of the domain of the embedding potential, the approach is free from parameters and it can be easily applied to DFT calculations with delocalized basis sets, e.g., plane waves, for which alternative approaches are either not viable or more computationally demanding. The proposed extrapolation strategy can be thus applied also to extended systems, as often studied in condensed-matter physics and materials science, and we illustrate how the embedding environment can be exploited to determine the energy of an adsorbing anion, here a chloride ion on a metal surface, whose charge configuration would be incorrectly predicted by standard density functionals.
Published: 2019

10. Author response for 'LEF1 haploinsufficiency causes ectodermal dysplasia'

Author: Isabelle Bailleul-Forestier, Joris Vermeesch, Yline Capri, Anne-Claude Tabet, Koen Devrient, Jonathan I. Levy, Alain Verloes, Myriam Rachid, and Céline Dupont
Subjects: Pathology, medicine.medical_specialty, Ectodermal dysplasia, business.industry, medicine, Haploinsufficiency, medicine.disease, business
Published: 2020

11. Ferroelectric polarization switching induced from water adsorption in BaTiO 3 ultrathin films

Author: Bruno Domenichini, Céline Dupont, Pierre-Marie Deleuze, Laboratoire Interdisciplinaire Carnot de Bourgogne [Dijon] (LICB), Université de Bourgogne (UB)-Université de Technologie de Belfort-Montbeliard (UTBM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), and Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Molecular adsorption, Materials science, Condensed matter physics, 02 engineering and technology, Dielectric, 021001 nanoscience & nanotechnology, 01 natural sciences, Ferroelectricity, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, Condensed Matter::Materials Science, Adsorption, 0103 physical sciences, [PHYS.COND.CM-MS]Physics [physics]/Condensed Matter [cond-mat]/Materials Science [cond-mat.mtrl-sci], [CHIM]Chemical Sciences, Density functional theory, 010306 general physics, 0210 nano-technology, Polarization (electrochemistry), ComputingMilieux_MISCELLANEOUS
Abstract: The influence of water on the out-of-plane polarization of ${\mathrm{BaTiO}}_{3}$ (BTO) ultrathin films is studied by means of density functional theory calculations. The adsorption is investigated for different coverages on both terminations of BTO with, for each case, all possible states of polarization, namely, paraelectric, polarized upward, and polarized downward. We thus demonstrate different behavior as a function of the termination. While ${\mathrm{H}}_{2}\mathrm{O}$ adsorbs only dissociatively on the BaO termination, with a reinforced interaction compared to BTO without out-of-plane polarization, only molecular adsorption is observed on the ${\mathrm{TiO}}_{2}$ termination. In addition, the presence of water is able to switch the polarization. Whatever the initial state of polarization is, water induces a downward state on the BaO termination and an upward polarization on the ${\mathrm{TiO}}_{2}$ one. A detailed analysis of this phenomenon is given.
Published: 2020

12. Liste des collaborateurs

Author: Nelly, Achour-Frydman, primary, Olivier, Ami, additional, Françoise, Aubron, additional, Magalie, Barth, additional, Delphine, Beghin, additional, Claire, Bélanger, additional, Alexandra, Benachi, additional, Bernard, Benoit, additional, Guillaume, Benoist, additional, Florence, Biquard, additional, Dominique, Bonneau, additional, Claude, Bouderlique, additional, Pierre-Emmanuel, Bouet, additional, Françoise, Boussion, additional, Yves, Brossard, additional, Anne-Sophie, Cabaret, additional, Bruno, Carbonne, additional, Vanina, Castaigne, additional, Gihad, Chalouhi, additional, Paul, Chatel, additional, Bernard, Cimon, additional, Anne-Gaël, Cordier, additional, Valérie, Cormier-Daire, additional, Anne, Cortey, additional, Marie-Pierre, Cournot, additional, Évelyne, Cynober, additional, Albert, David, additional, Jocelyne, De Laveau-Coupet, additional, Benoît, Delorme, additional, Philippe, Descamps, additional, Alain, Diguet, additional, Julia, Dina, additional, Marc, Dommergues, additional, Guillaume, Ducarme, additional, Céline, Dupont-Bernabé, additional, Philippe, Duverger, additional, Sandra, El Sabbagh, additional, Élisabeth, Elefant, additional, René, Frydman, additional, Philippe, Gillard, additional, Stéphanie, Gouarin, additional, Liliane, Grangeot-Keros, additional, Agnès, Guichet, additional, Martine, Hérault, additional, Michel, Herlicoviez, additional, Véronique, Houfflin-Debarge, additional, Bertrand, Isidor, additional, François, Kotras, additional, Marc, Larsen, additional, Cédric, Le Caignec, additional, Martine, Le Merrer, additional, Magali, Leblanc, additional, Marc-David, Leclair, additional, Céline, Lefebvre-Lacœuille, additional, Catherine, Lépinard, additional, Ronaldo, Levy, additional, Didier, Loisel, additional, Dominique, Luton, additional, Laurent, Macchi, additional, Agnès, Mailloux, additional, Laurent, Mandelbrot, additional, Sylvie, Manouvrier-Hanu, additional, Anne-Élisabeth, Mas, additional, Marie-Caroline, Mas-Caradec, additional, Matthieu, Mezzadri, additional, Daniel, Moeglin, additional, Jean-Marc, Mouillie, additional, Isabelle, Ollivier, additional, Sophie, Patrier, additional, Philippe, Pézard, additional, Olivier, Picone, additional, Fabrice, Pierre, additional, Brigitte, Porcheron, additional, Patrice, Poulain, additional, Thierry, Rousseau, additional, Paul, Sagot, additional, Mariane, Saidi, additional, Loïc, Sentilhes, additional, Stéphane, Triau, additional, Christelle, Vauloup-Fellous, additional, Catherine, Vauzelle, additional, Éric, Verspyck, additional, Benjamin, Viaris De Lesegno, additional, Yves, Ville, additional, Edith, Vuillard, additional, Dominique, Weil, additional, and Norbert, Winer, additional
Published: 2011
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13. LEF1 haploinsufficiency causes ectodermal dysplasia

Author: Céline Dupont, Isabelle Bailleul-Forestier, Anne-Claude Tabet, Joris Vermeesch, Yline Capri, Alain Verloes, Myriam Rachid, Jonathan Levy, and Koen Devriendt
Subjects: 0301 basic medicine, Adult, Male, Ectodermal dysplasia, animal structures, Lymphoid Enhancer-Binding Factor 1, Mesenchyme, Ectoderm, Oligodontia, Haploinsufficiency, 030105 genetics & heredity, Biology, 03 medical and health sciences, Mice, Young Adult, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Hypohidrotic ectodermal dysplasia, Genetics (clinical), beta Catenin, Ectodermal Dysplasia 1, Anhidrotic, Wnt signaling pathway, NF-kappa B, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, embryonic structures, Cancer research, Hypotrichosis, Female, Signal Transduction
Abstract: Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF-κB or the Wnt/β-catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm-derived structures. Wnt/β-catenin pathway requires the lymphoid enhancer-binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing LEF1, associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. We provide further evidence for LEF1 haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype.
Published: 2019

14. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

Author: Bérénice Hervé, Kamran Moradkhani, Marianne Till, François Vialard, Chantal Missirian, Nathalie Douet-Guilbert, Martine Doco-Fenzy, Clémence Jacquin, Pauline Jaeger, Anne-Claude Tabet, Valérie Malan, Sylvia Redon, Céline Dupont, Sarah Guterman, Claire Beneteau, centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Robert Debré Paris, Hôpital Robert Debré, Hôpital de la Timone [CHU - APHM] (TIMONE), Hospices Civils de Lyon (HCL), Gamètes, implantation, gestation (GIG), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), SFR CAP Santé (Champagne-Ardenne Picardie Santé), and Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)
Subjects: 0301 basic medicine, Adult, Pediatrics, medicine.medical_specialty, Microarray, Chromosome Disorders, 030105 genetics & heredity, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pregnancy, Retrognathia, Prenatal Diagnosis, medicine, Humans, Abnormalities, Multiple, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, 030219 obstetrics & reproductive medicine, 1p36 deletion syndrome, business.industry, Cytogenetics, Obstetrics and Gynecology, Retrospective cohort study, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, Microarray Analysis, 3. Good health, Chromosomes, Human, Pair 1, Karyotyping, Female, France, Abnormality, Chromosome Deletion, business, Ventriculomegaly
Abstract: International audience; Objective/Method 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion diagnosed prenatally by French cytogenetics laboratories using a chromosomal microarray. We then compared these new cases with the literature data. Results Ten new cases were reported. On average, the 1p36 deletion was diagnosed at 19 weeks of gestation. The size of the deletion ranged from 1.6 to 16 Mb. The 1p36 deletion was the only chromosomal abnormality in eight cases and was associated with a complex chromosome 1 rearrangement in the two remaining cases. The invasive diagnostic procedure had always been prompted by abnormal ultrasound findings: elevated nuchal translucency, structural brain abnormality, retrognathia, or a cardiac defect. Multiple anomalies were present in all cases. Discussion We conclude that 1p36 deletion is not associated with any specific prenatal signs. We suggest that a prenatal observation of ventriculomegaly, congenital heart defect, or facial dysmorphism should prompt the clinician to consider a diagnosis of 1p36 deletion syndrome.
Published: 2019

15. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Stephan Kemeny, Sandrine Passemard, Sandra Chantot-Bastaraud, Chloé Quélin, Laurence Perrin, Julien Buratti, Patrick Edery, Céline Dupont, Chantal Missirian, Philippe Vago, Alexandra Afenjar, Marie-Laure Vuillaume, Yline Capri, Klaus Dieterich, Laila El Khattabi, Charles Coutton, Françoise Devillard, Annick Toutain, Alain Verloes, Nicole Philip, Hubert Journel, Véronique Satre, Marie Ducloy, Delphine Héron, Richard Delorme, Cédric Le Caignec, Anne-Claude Tabet, Damien Sanlaville, Isabelle Marey, Laurence Faivre, Christèle Dubourg, Anne-Laure Mosca-Boidron, Laetitia Gouas, Abdelamdjid Benmansour, Jean Chiesa, Séverine Drunat, Cyril Mignot, Aurélia Jacquette, Boris Keren, Claire S. Leblond, Claire Beneteau, Brigitte Benzacken, Vincent Gatinois, Olivier Pichon, Damien Haye, Roberto Toro, Sandra Whalen, Dominique Martin, Thomas Rolland, Thomas Bourgeron, Albert David, Alexandre Mathieu, Mélanie Fradin, Frédérique Amsellem, Bertrand Isidor, James Lespinasse, Caroline Rooryck, Jacques Puechberty, Eva Pipiras, Lucile Pinson, Didier Lacombe, Jonathan M. Levy, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], CHU Trousseau [APHP], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], Hospices Civils de Lyon (HCL), CHU de Lyon, Centre Hospitalier Universitaire [Grenoble] (CHU), Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier de Chambéry (C.H.de Chambéry), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Le Mans (CH Le Mans), AP-HP Hôpital universitaire Robert-Debré [Paris], Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, UF de Cytogénétique, Institut Pasteur [Paris], Université de Bordeaux (UB), École normale supérieure - Rennes (ENS Rennes), Unité de Mathématique, Informatique et Génome (MIG), Institut National de la Recherche Agronomique (INRA), Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de génétique clinique [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Service de Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de Génétique et d'Embryologie Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Gatonero SA, Hôtel-Dieu de Nantes, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Médicale, CHU Clermont-Ferrand-Hôpital d'Estaing, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique chromosomique [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de référence des anomalies du développement [Lyon], UF de Biochimie et Génétique Moléculaire (BGM), CHU Grenoble, Dynamique Cellulaire et Tissulaire- Interdisciplinarité, Modèles & Microscopies (TIMC-IMAG-DyCTiM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF), IMAXIO, Maladies rares, génétique et métabolisme / Rare Diseases, Genetics and Metabolism, École de sage femme - Groupe hospitalier Pellegrin - CHU de Bordeaux-Institut National de la Santé et de la Recherche Médicale (INSERM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Universitaire Carémeau [Nîmes], Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-Hôpital Sud, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Centre Hospitalier Bretagne Atlantique [Vannes], Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Rolland, Thomas
Subjects: medicine.medical_specialty, lcsh:QH426-470, lcsh:Medicine, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, 0302 clinical medicine, Phelan-McDermid syndrome, Genetics, medicine, 0501 psychology and cognitive sciences, In patient, Clinical genetics, Author Correction, Psychiatry, Molecular Biology, Genetics (clinical), business.industry, lcsh:R, Neurodevelopmental disorders, 05 social sciences, lcsh:Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Medical genetics, business, 030217 neurology & neurosurgery, 050104 developmental & child psychology
Abstract: Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of chromosome 22q13 that in most cases includes the SHANK3 gene. SHANK3 is considered a major gene for PMS, but the factors that modulate the severity of the syndrome remain largely unknown. In this study, we investigated 85 patients with different 22q13 rearrangements (78 deletions and 7 duplications). We first explored the clinical features associated with PMS, and provide evidence for frequent corpus callosum abnormalities in 28% of 35 patients with brain imaging data. We then mapped several candidate genomic regions at the 22q13 region associated with high risk of clinical features, and suggest a second locus at 22q13 associated with absence of speech. Finally, in some cases, we identified additional clinically relevant copy-number variants (CNVs) at loci associated with ASD, such as 16p11.2 and 15q11q13, which could modulate the severity of the syndrome. We also report an inherited SHANK3 deletion transmitted to five affected daughters by a mother without ID nor ASD, suggesting that some individuals could compensate for such mutations. In summary, we shed light on the genotype-phenotype relationship of patients with PMS, a step towards the identification of compensatory mechanisms for a better prognosis and possibly treatments of patients with neurodevelopmental disorders., The underlying genetics of Phelan-McDermid syndrome Multiple chromosomal changes may impact the severity of symptoms in people with Phelan-McDermid syndrome (PMS). Thomas Bourgeron of the Institut Pasteur and colleagues in France conducted genomic analyses and explored the clinical features of 85 people with PMS, a condition caused by a deletion in the long arm of chromosome 22. It is often associated with severe symptoms such as intellectual disability, autism, and seizures. The chromosomal changes in 65% of those studied were not inherited. MRI brain scans showed visible abnormalities in 23 of 35 patients imaged. The size of the chromosomal deletion varied. Patients with small deletions were more likely to have autistic symptoms while those with large deletions were more likely to be unable to talk. The team also identified genes in chromosome 22 and in other regions of the genome that could modify the severity of PMS symptoms.
Published: 2019

16. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

Author: Chantal Missirian, Sylvie Jaillard, Valérie Malan, Marianne Till, Paul Kuentz, Claire Beneteau, Brigitte Simon-Bouy, Marguerite Hureaux, François Vialard, Nathalie Marle, Nicolas Gruchy, Bérénice Hervé, Laurent Salomon, Morgane Plutino, Fabienne Prieur, Lucie Tosca, Caroline Rooryck, Céline Dupont, Charles Coutton, Caroline Schluth-Bolard, Sarah Guterman, Mylène Valduga, Damien Sanlaville, Sylvie Redon, Jacques Puechberty, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain, Gamètes, implantation, gestation (GIG), centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Hospices Civils de Lyon (HCL), CHU Pontchaillou [Rennes], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Laboratoire de Génétique Chromosomique [CHU de Grenoble], CHU Grenoble, Pôle Couple-Enfant, Département de Génétique et Procréation, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre Hospitalier Versailles, 78000 Le Chesnay, France, parent, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Bordeaux [Bordeaux], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Nice (CHU Nice), AP-HP - Hôpital Antoine Béclère [Clamart], Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université Sorbonne Paris Cité (USPC)
Subjects: 0301 basic medicine, Adult, Heart Defects, Congenital, medicine.medical_specialty, Microarray, DNA Copy Number Variations, Prenatal diagnosis, 030105 genetics & heredity, ULTRASOUND FINDINGS, FREQUENCY, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Fetus, Pregnancy, Internal medicine, Prenatal Diagnosis, Alagille syndrome, medicine, Humans, Copy-number variation, Genetic Testing, PRENATAL-DIAGNOSIS, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Kleefstra Syndrome, Retrospective Studies, Chromosome Aberrations, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, business.industry, ABNORMALITIES, Obstetrics and Gynecology, Chromosome, Karyotype, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Syndrome, medicine.disease, Microarray Analysis, 3. Good health, COPY NUMBER, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, Female, France, business, HYBRIDIZATION
Abstract: International audience; Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective of this study was to evaluate the value of CMA after the prenatal diagnosis of an isolated CHD. Methods In a retrospective, nationwide study performed in France, we collected data on all cases of isolated CHD that had been explored using CMAs in 2015. Results A total of 239 fetuses were included and 33 copy number variations (CNVs) were reported; 19 were considered to be pathogenic, six were variants of unknown significance, and eight were benign variants. The anomaly detection rate was 10.4% overall but ranged from 0% to 16.7% as a function of the isolated CHD in question. The known CNVs were 22q11.21 deletions (n = 10), 22q11.21 duplications (n = 2), 8p23 deletions (n = 2), an Alagille syndrome (n = 1), and a Kleefstra syndrome (n = 1). Conclusion The additional diagnostic yield was clinically significant (3.1%), even when anomalies in the 22q11.21 region were not taken into account. Hence, patients with a suspected isolated CHD and a normal karyotype must be screened for chromosome anomalies other than 22q11.21 duplications and deletions.
Published: 2019

17. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Author: Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre, Laboratoire de Biologie Moléculaire de la Cellule (LBMC), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique [CHU Lyon] (Centre de pathologie de l'Est), Hospices civils de Lyon (HCL), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-Hôpital Couple-Enfant, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service de Génétique Médicale, Centre Hospitalier Intercommunal, Toulon, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de génétique médicale, CHU Amiens-Picardie, Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Pôle Couple-Enfant, Département de Génétique et Procréation, Centre de génétique et Centre de référence maladies rares et anomalies du développement et syndromes malformatifs du Centre Est, Département de Génétique et Procréation UF-Hôpital Couple Enfant de Grenoble-CHU Grenoble, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Service de Génétique, Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Groupe Hospitalier Est, Génétique Médicale, Centre hospitalier universitaire de Poitiers (CHU Poitiers)-Centre de Référence Anomalies du Développement Ouest, CHU Rouen, Normandie Université (NU), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Service de génétique [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Université de Bordeaux (UB), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne, Université de Lyon, Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, École normale supérieure - Rennes (ENS Rennes), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière [AP-HP], Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de Cytogénétique, Centre hospitalier de Valence, CHU Clermont-Ferrand, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Nice Sophia Antipolis - Faculté de Médecine (UNS UFR Médecine), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Dept of Immunology, Genetics and Pathology, Service de Génétique Clinique (CHU de Saint-Etienne), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie pédiatrique [CHU Necker], CHU Bordeaux [Bordeaux], Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Service de génétique, CHU Saint-Etienne-Hôpital nord, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), French National Agency for Research, French Ministry of Health, École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Centre de recherche en neurosciences de Lyon (CRNL), Université Nice Sophia Antipolis (... - 2019) (UNS), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)
Subjects: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, 030105 genetics & heredity, Genome, Translocation, Genetic, Structural variation, Chromosome Breakpoints, Structure-Activity Relationship, Young Adult, 03 medical and health sciences, symbols.namesake, position effect, Genetics, Humans, Child, Gene, Genetic Association Studies, Genetics (clinical), Paired-end tag, ComputingMilieux_MISCELLANEOUS, chromosomal rearrangements, Chromosome Aberrations, Gene Rearrangement, Whole genome sequencing, Sanger sequencing, whole genome sequencing, biology, structural variation, Infant, NFIX, Phenotype, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, Child, Preschool, biology.protein, symbols, Female, Biomarkers
Abstract: BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 patients included (41 reciprocal translocations, 4 inversions, 2 insertions and 8 complex chromosomal rearrangements), we were able to detect 89% of chromosomal rearrangements (49/55). Molecular signatures at the breakpoints suggested that DNA breaks arose randomly and that there was no major influence of repeated elements. Non-homologous end-joining appeared as the main mechanism of repair (55% of rearrangements). A diagnosis could be established in 22/49 patients (44.8%), 15 by gene disruption (KANSL1, FOXP1, SPRED1, TLK2, MBD5, DMD, AUTS2, MEIS2, MEF2C, NRXN1, NFIX, SYNGAP1, GHR, ZMIZ1) and 7 by position effect (DLX5, MEF2C, BCL11B, SATB2, ZMIZ1). In addition, 16 new candidate genes were identified. Systematic gene expression studies further supported these results. We also showed the contribution of topologically associated domain maps to WGS data interpretation.ConclusionPaired-end WGS is a valid strategy and may be used for structural variation characterisation in a clinical setting.
Published: 2019

18. Theoretical investigation of the platinum substrate influence on BaTiO 3 thin film polarisation

Author: Pierre-Marie Deleuze, Agnes Mahmoud, Céline Dupont, Bruno Domenichini, Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire Carnot de Bourgogne [Dijon] (LICB), Université de Bourgogne (UB)-Université de Technologie de Belfort-Montbeliard (UTBM)-Centre National de la Recherche Scientifique (CNRS), Dipartimento di Chimica and Centre of Excellence NIS (Nanostructured Interfaces and Surfaces), Università degli studi di Torino (UNITO), UF de Cytogénétique, and AP-HP Hôpital universitaire Robert-Debré [Paris]
Subjects: Materials science, Condensed matter physics, General Physics and Astronomy, chemistry.chemical_element, 02 engineering and technology, Substrate (electronics), 010402 general chemistry, 021001 nanoscience & nanotechnology, Epitaxy, 01 natural sciences, Ferroelectricity, 0104 chemical sciences, chemistry, Phase (matter), [CHIM]Chemical Sciences, Density functional theory, Physical and Theoretical Chemistry, Thin film, 0210 nano-technology, Platinum, Layer (electronics), ComputingMilieux_MISCELLANEOUS
Abstract: Density functional theory calculations are performed to study the out-of-plane polarisation in BaTiO3 (BTO) thin films epitaxially grown on platinum. Prior to any polarisation calculation, the stability of the Pt(001)/BaTiO3(001) structure is thoroughly discussed. In particular, the nature of the Pt/BTO and BTO/vacuum interfaces is characterised. The growth of BTO is shown to start with a TiO2 layer while the nature of the surface termination does not broadly modify the stability. Therefore both upper terminations are considered when describing the ferroelectric behaviour in Pt/BTO interfaces. The geometric and electronic effects of the substrate on the polarisation are investigated. To isolate the electronic influence of platinum, the out-of-plane polarisation in Pt/BTO systems is compared to the one in isolated BTO slabs constrained to the same lattice mismatch induced by the epitaxial growth on platinum. The ferroelectric phase is favoured as soon as the thickness is larger than 23 A, both for isolated and deposited BTO, for the smallest width. The Pt substrate will modify the size of polarisation domains, while an upper BaO layer through the use of asymmetric [TiO2/BaO] systems will induce an increase of the polarisation. One could take advantage of this experimentally.
Published: 2019

19. Enhancing α-Fe2O3(0 0 0 1) surfaces reactivity through lattice-strain control

Author: Céline Dupont, Agnes Mahmoud, Dipartimento di Chimica and Centre of Excellence NIS (Nanostructured Interfaces and Surfaces), Università degli studi di Torino (UNITO), Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire Carnot de Bourgogne [Dijon] (LICB), and Université de Bourgogne (UB)-Université de Technologie de Belfort-Montbeliard (UTBM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Molecular adsorption, Materials science, General Physics and Astronomy, 02 engineering and technology, Surfaces and Interfaces, General Chemistry, Tensile strain, Hematite, 010402 general chemistry, 021001 nanoscience & nanotechnology, Condensed Matter Physics, 01 natural sciences, Dissociation (chemistry), 0104 chemical sciences, Surfaces, Coatings and Films, Lattice strain, Adsorption, Chemical physics, visual_art, visual_art.visual_art_medium, [CHIM]Chemical Sciences, Density functional theory, 0210 nano-technology, ComputingMilieux_MISCELLANEOUS, Self-ionization of water
Abstract: International audience; In-plane strain-engineered water adsorption on Fe-and O 3-terminated-Fe 2 O 3 (0 0 0 1) surfaces was investigated using dispersion corrected density functional theory. We found that in order to enhance the water adsorption capacity different type of in-plane strain is needed to be applied on the two surfaces. On Fe-terminated surface increasing compressive strain facilitates water molecular adsorption. We demonstrate that this result mainly comes from the structural behavior of the outmost Fe cation on clean Fe-terminated surface. On the contrary, inplane tensile strain favors water adsorption and dissociation on the O 3-terminated surface. We discuss in details the possible reasons of this difference between the two surfaces in terms of structural parameters. Furthermore, we found that the two surfaces can represent two competitive molecular adsorption sites at a certain tensile strain in mixed surfaces. Finally, while strain is found to have a wide influence on the dissociation of water on the O 3 termination, its effect is less pronounced on the Fe terminated one. According to our results strainengineering on hematite surfaces represents a feasible way to enhance the reactivity.
Published: 2020

20. The nature of the Pt(111)/α-Fe

Author: Agnes, Mahmoud, Pierre-Marie, Deleuze, and Céline, Dupont
Abstract: Density functional theory calculations are performed to give a thorough description of structural, energetic, and electronic properties of Pt(111)/α-Fe
Published: 2018

21. Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses

Author: Suonavy Khung-Savatovsky, Fabien Guimiot, Céline Dupont, Anne-Lise Delezoide, Jonathan Rosenblatt, and Pascaline Létard
Subjects: 0301 basic medicine, Trisomy 13 Syndrome, business.industry, Aneuploidy, Anatomy, Phalanx, medicine.disease, 03 medical and health sciences, Finger Phalanges, 030104 developmental biology, Fetus, Holoprosencephaly, Thumb, Hypotelorism, Anophthalmos, Genetics, medicine, Hallux, Humans, Microphthalmos, business, Trisomy, Brachycephaly, Toe Phalanges, Genetics (clinical)
Abstract: Trisomy 13 or Patau syndrome (PS) is a well-known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the literature, most of which were live-born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), were examined. The main defects observed were similar to those described in live-born patients: congenital heart defects (76%), holoprosencephaly spectrum anomalies including arhinencephaly and hypotelorism (74%), urinary tract anomalies (71%), ear anomalies (69%), postaxial polydactyly (67%), anogenital anomalies (60%), anophthalmos, and/or microphthalmos (53%), brachycephaly (45%), and oro-facial clefts (45%). A duplication or triplication of at least one distal phalanx of the thumb or hallux was present in 38% of fetuses. This sign has only been reported previously in one patient in the literature. Fetal examination in trisomy 13, is thus, useful to complete the phenotype or to orient diagnosis toward trisomy 13 in the absence of cytogenetic analysis.
Published: 2018

22. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Author: François Vialard, Giuseppe Simoni, Nina Horelli-Kuitunen, Gloria Queipo, Philippe Vago, Sandra García-Herrero, Tak Yeung Leung, Rita Genesio, Brigitte Benzacken, Federico Maggi, Alberto González de la Vega, Anne Claude Tabet, Thibault Quibel, Krzysztof Piotrowski, Céline Dupont, Kirsi Piippo, Jose Ferreira, Viola Alesi, Francesca Romana Grati, Antonio Novelli, Denise Molina Gomes, Bérénice Hervé, Laetitia Gouas, Barbara Malvestiti, and Kwong Wai Choy
Subjects: Pediatrics, medicine.medical_specialty, education.field_of_study, Pregnancy, Screening test, business.industry, Incidence (epidemiology), Population, Obstetrics and Gynecology, Prenatal diagnosis, Retrospective cohort study, medicine.disease, DiGeorge syndrome, Gene duplication, medicine, education, business, Genetics (clinical)
Abstract: Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-BeadsTM (PNBoBsTM) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBsTM under different prenatal indications. Methods A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBsTM and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. Results The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBsTM in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. Conclusions The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis. © 2015 John Wiley & Sons, Ltd.
Published: 2015

23. A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Author: Séverine Drunat, Frédérique Amsellem, Dominique Martin, Laurence Faivre, Sandra Chantot-Bastaraud, Bertrand Isidor, James Lespinasse, Sandrine Passemard, Jean Chiesa, Roberto Toro, Olivier Pichon, Françoise Devillard, Céline Dupont, Damien Haye, Julien Buratti, Hubert Journel, Sandra Whalen, Marie Ducloy, Cédric Le Caignec, Thomas Rolland, Alexandre Mathieu, Jean-Michel Dupont, Marie-Laure Vuillaume, Annick Toutain, Alain Verloes, Delphine Héron, Didier Lacombe, Jonathan M. Levy, Nicole Philip, Damien Sanlaville, Laurence Perrin, Anne-Claude Tabet, Laetitia Gouas, Caroline Rooryck, Mélanie Fradin, Richard Delorme, Philippe Vago, Christèle Dubourg, Eva Pipiras, Klaus Dieterich, Vincent Gatinois, Claire Beneteau, Jacques Puechberty, Thomas Bourgeron, Véronique Satre, Aurélia Jacquette, Lucile Pinson, Boris Keren, Albert David, Brigitte Benzacken, Anne-Laure Mosca-Boidron, Cyril Mignot, Charles Coutton, Patrick Edery, Chantal Missirian, Chloé Quélin, Alexandra Afenjar, Yline Capri, Stephan Kemeny, Abdelamdjid Benmansour, and Isabelle Marey
Subjects: Genetics, 0303 health sciences, Locus (genetics), Biology, medicine.disease, Corpus callosum, Major gene, SHANK3 Gene, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Autism, In patient, 030217 neurology & neurosurgery, 030304 developmental biology, Modifier Genes
Abstract: Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability, speech impairment, and autism spectrum disorders (ASD). It results from a deletion of the 22q13 locus that in most cases includes the SHANK3 gene. SHANK3 is considered a major gene for PMS, but the factors modulating the severity of the syndrome remain largely unknown. In this study, we investigated 85 PMS patients with different 22q13 rearrangements (78 deletions, 7 duplications). We first explored their clinical features and provide evidence for frequent corpus callosum abnormalities. We then mapped candidate genomic regions at the 22q13 locus associated with risk of clinical features, and suggest a second locus associated with absence of speech. Finally, in some cases, we identified additional rearrangements at loci associated with ASD, potentially modulating the severity of the syndrome. We also report the first SHANK3 deletion transmitted to five affected daughters by a mother without intellectual disability nor ASD, suggesting that some individuals could compensate for such mutations. In summary, we shed light on the genotype-phenotype relationship of PMS, a step towards the identification of compensatory mechanisms for a better prognosis and possibly treatments of patients with neurodevelopmental disorders.
Published: 2017

24. A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloes, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot-Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Beneteau, Olivier Pichon, Bertrand Isidor, Albert David, Laila El Khattabi, Stephan Kemeny, Laetitia Gouas, Philippe Vago, Anne-Laure Mosca-Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie-Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gatinois, Jacques Puechberty, Jean Chiesa, James Lespinasse, Christèle Dubourg, Chloé Quelin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité (USPC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Jean Verdier [AP-HP], CHU Trousseau [APHP], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Dijon, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Service de génétique [Hôpial Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire [Grenoble] (CHU), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Métropole Savoie [Chambéry], Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Hôpital Chubert, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Le Mans (CH Le Mans), Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), This work was funded by the Institut Pasteur, the Bettencourt-Schueller Foundation, Centre National de la Recherche Scientifique, University Paris Diderot, the Conny-Maeva Charitable Foundation, the Cognacq Jay Foundation, the Orange Foundation, the FondaMental Foundation, the GenMed Labex and the BioPsy Labex. The research leading to these results has received funding from the ERA-Net NEURON Cofund Programme under 'Horizon 2020' (SynPathy project), the ANR SynDivAutism, the Human Brain Project, and from the Innovative Medicines Initiative Joint Undertaking under grant agreement no. 115300, resources of which are composed of financial contribution from the European Union’s Seventh Framework Program (FP7/2007-2013) and EFPIA companies’ in kind contribution., We are grateful to the families for participating in this study. We thank Isabelle Cloëz-Tayarani, Ksenia Bagrintseva and Gaël Millot for helpful discussions and careful reading of the manuscript. This study was funded by a French partnership between the Clinical Research Department of the AP-HP Institution and the Institut Pasteur. It was also supported by the PMS French association (Mrs Meunier), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013), European Project: 291840,EC:FP7:HEALTH,FP7-ERANET-2011-RTD,ERA-NET NEURON II(2012), European Project: 115300,EC:FP7:SP1-JTI,IMI-JU-03-2010,EU-AIMS(2012), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique et embryologie médicales [CHU Trousseau], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], CHU de Lyon, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier de Chambéry (C.H.de Chambéry), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Herrada, Anthony, Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, Santé Mentale et Addictions - Diversité Synaptique dans l'autisme - - SynDivAutism2013 - ANR-13-SAMA-0006 - SAMENTA - VALID, Network of European funding for Neuroscience research - ERA-NET NEURON II - - EC:FP7:HEALTH2012-01-01 - 2015-12-31 - 291840 - VALID, European Autism Interventions - A Multicentre Study for Developing New Medications - EU-AIMS - - EC:FP7:SP1-JTI2012-04-01 - 2017-03-31 - 115300 - VALID, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: lcsh:Genetics, lcsh:QH426-470, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], lcsh:R, Neurodevelopmental disorders, lcsh:Medicine, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Clinical genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Abstract: International audience; Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results from a deletion of the distal part of chromosome 22q13 that in most cases includes theSHANK3gene.SHANK3is considered a major gene for PMS, but the factors that modulate the severity of the syndrome remain largely unknown. In this study, we investigated 85 patients with different 22q13 rearrangements (78 deletions and 7 duplications). We first explored the clinical features associated with PMS, and provide evidence for frequent corpus callosum abnormalities in 28% of 35 patients with brain imaging data. We then mapped several candidate genomic regions at the 22q13 region associated with high risk of clinical features, and suggest a second locus at 22q13 associated with absence of speech. Finally, in some cases, we identified additional clinically relevant copy-number variants (CNVs) at loci associated with ASD, such as 16p11.2 and 15q11q13, which could modulate the severity of the syndrome. We also report an inheritedSHANK3deletion transmitted to five affected daughters by a mother without ID nor ASD, suggesting that some individuals could compensate for such mutations. In summary, we shed light on the genotype-phenotype relationship of patients with PMS, a step towards the identification of compensatory mechanisms for a better prognosis and possibly treatments of patients with neurodevelopmental disorders.
Published: 2017

25. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Author: Francesca Romana Grati, Bettina Bessieres-Grattagliano, Claire Beneteau, Nina Horelli-Kuitunen, François Vialard, D. Molina-Gomes, Jose Antonio Martínez-Conejero, Céline Dupont, Kwong Wai Choy, Azzedine Aboura, Sylvie Jaillard, Justine Besseau-Ayasse, Giuseppe Simoni, Marie-Laure Maurin, Aurélie Coussement, Anne-Claude Tabet, Jérôme Toutain, Gustavo Ayala, and Brigitte Benzacken
Subjects: Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Obstetrics and Gynecology, Chromosome, Prenatal diagnosis, medicine.disease, Phenotype, 3. Good health, Medicine, Copy-number variation, Expressivity (genetics), business, Genetics (clinical), Comparative genomic hybridization
Abstract: Microduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe malformations with profound mental retardation. Hence, genetic counseling is particularly challenging when microduplication 22q11.2 is identified in a prenatal diagnosis. Here, we report on 24 prenatal cases of microduplication 22q11.2. Seventeen of the cases were also reanalyzed by microarray analysis, in order to determine copy number variations (CNVs, which are thought to influence expressivity). We also searched for possible correlations between fetal phenotypes, indications for invasive prenatal diagnosis, inheritance, and pregnancy outcomes. Of the 24 cases, 15 were inherited, six occurred de novo, and three were of unknown origin. Termination of pregnancy occurred in seven cases and was mainly decided on the basis of ultrasound findings. Moreover, additional CNVs were found in some patients and we try to make a genotype-phenotype correlation. We discuss the complexity of genetic counseling for microduplication 22q11.2 and comment on possible explanations for the clinical heterogeneity of this syndrome. In particular, we assessed the co-existence of additional CNVs and their contribution to phenotypic variations in chromosome 22q11.2 microduplication syndrome. © 2014 John Wiley & Sons, Ltd.
Published: 2014

26. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Author: Justine Besseau-Ayasse, François Vialard, Nicolas Gruchy, Melanie Jimenez, F. Amblard, P. Teboul, Mylène Valduga, F. Girard, Géraldine Joly-Helas, M. P. Beaujard, Pascale Kleinfinger, Céline Dupont, F. Carré-Pigeon, J. L. Bresson, Marie-France Portnoï, S. Bouquillon, M. Catty, Marianne Till, James Lespinasse, Aline Receveur, Anne Bazin, Dominique Martin, Catherine Yardin, M. Doco-Fenzy, Claire Beneteau, Aurélie Coussement, Philippe Vago, Anne Moncla, Eva Pipiras, Vincent Gatinois, Hakima Lallaoui, François Cartault, Fanny Pelluard, Francine Mugneret, S. Tapia, Sophie Brisset, Fabienne Prieur, Emmanuel Nowak, D. Molina Gomes, N. Le Meur, C. Violle-Poirsier, and N. Douet Guilbert
Subjects: Polyhydramnios, Pregnancy, Fetus, Pediatrics, medicine.medical_specialty, business.industry, Obstetrics and Gynecology, Autopsy, Prenatal diagnosis, Retrospective cohort study, medicine.disease, 3. Good health, DiGeorge syndrome, medicine, Gestation, business, Genetics (clinical)
Abstract: Objective The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions. We performed a collaborative, retrospective analysis in France of prenatal diagnoses and outcomes of fetuses carrying the del22q11.2. Methods A total of 272 fetuses were included. Data on prenatal diagnosis, ultrasound findings, pathological features, outcomes and inheritance were analyzed. Results The mean time of prenatal diagnosis was 25.6 ± 6 weeks of gestation. Most of the diagnoses (86.8%) were prompted by abnormal ultrasound findings [heart defects (HDs), in 83.8% of cases]. On fetal autopsy, HDs were again the most common disease feature, but thymus, kidney abnormalities and facial dysmorphism were also described. The deletion was inherited in 27% of cases. Termination of pregnancy (TOP) occurred in 68.9% of cases and did not appear to depend on the inheritance status. However, early diagnosis was associated with a higher TOP rate. Conclusion This is the largest cohort of prenatal del22q11.2 diagnoses. As in postnatally diagnosed cases, HDs were the most frequently observed abnormalities. However, thymus and kidney abnormalities and polyhydramnios should also be screened for in the prenatal diagnosis of del22q11.2. Only the time of diagnosis appeared to be strongly associated with the pregnancy outcome: the earlier the diagnosis, the higher the TOP rate. © 2014 John Wiley & Sons, Ltd.
Published: 2014

27. Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Author: Severine Bacrot, Eva Pompilii, Sabrina Rossi, Nathalie Leporrier, Livia Marcato, Arnaud Molin, Giuseppe Simoni, Enzo Troilo, François Vialard, Gabriella Bracalente, Demetrio Baldo, Anne Lise Delezoide, Licia Turolla, Simona De Toffol, Francesca Romana Grati, Céline Dupont, Gianluigi Pilu, Federico Maggi, Anne Claude Tabet, Nicolas Gruchy, L. Marcato, L. Turolla, E. Pompilii, C. Dupont, N. Gruchy, S. D. Toffol, G. Bracalente, S. Bacrot, E. Troilo, A. C. Tabet, S. Rossi, A. L. Delezoïde, D. Baldo, N. Leporrier, F. Maggi, A. Molin, G. Pilu, G. Simoni, F. Vialard, and F. R. Grati
Subjects: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Williams-beuren syndrome, prenatal, phenotype, business.industry, SINDROME DI WILLIAMS, Williams–Beuren critical region, Prenatal diagnosis, Case Reports, Array CGH, General Medicine, Bioinformatics, Phenotype, PRENATAL DIAGNOSIS, prenatal BACs on beads, Gene duplication, medicine, AMNIOCENTESIS, cardiovascular diseases, CONGENITAL ANOMALIES, business, ULTRASOUND, Reciprocal
Abstract: Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
Published: 2014

28. Surface oxidation issues in CO oxidation bimetallic surfaces studied by NAP-XPS

Author: Eric Ehret, Bongjin Simon Mun, Marie-Angélique Languille, Jean-Jacques Gallet, Fabrice Bournel, Céline Dupont, David Loffreda, and Francisco José Cadete Santos Aires
Subjects: 02 engineering and technology, 010402 general chemistry, 021001 nanoscience & nanotechnology, 0210 nano-technology, 01 natural sciences, 0104 chemical sciences
Published: 2016

29. Mowat–Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: Advocacy for standard autopsy

Author: Clarisse Baumann, Fabien Guimiot, Emmanuel Spaggiari, Nadia Belarbi, J. F. Oury, Marianne Alison, Anne-Lise Delezoide, and Céline Dupont
Subjects: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Mowat–Wilson syndrome, Autopsy, Disease, Corpus callosum, Corpus Callosum, Epilepsy, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Internal medicine, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, Genetics (clinical), Zinc Finger E-box Binding Homeobox 2, Genetic testing, Homeodomain Proteins, Fetus, medicine.diagnostic_test, business.industry, Infant, Newborn, Facies, General Medicine, medicine.disease, Magnetic Resonance Imaging, Repressor Proteins, Phenotype, Endocrinology, Mutation, Microcephaly, Female, Agenesis of Corpus Callosum, business
Abstract: Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported. It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies. Here we report a fetal case of MWS well described, suspected at standard autopsy. The association of a corpus callosum hypoplasia with a histological Hirschsprung disease and a typical facial gestalt allowed the guiding of genetic testing. Classical fetopathological examination still keeps indications in cases of syndromic association in the era of virtual autopsy.
Published: 2013

30. Promoter Effect of Early Stage Grown Surface Oxides: A Near-Ambient-Pressure XPS Study of CO Oxidation on PtSn Bimetallics

Author: Céline Dupont, Y. Jugnet, Funda Aksoy Akgul, E. Ehret, Zhi Liu, Bongjin Simon Mun, Françoise Delbecq, David Loffreda, Francisco J. Cadete Santos Aires, 0-Belirlenecek, SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Chimie - UMR5182 (LC), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Aires, Francisco J. Cadete Santos -- 0000-0003-4617-0227, Liu, Zhi -- 0000-0002-8973-6561, Dupont, Celine -- 0000-0001-5291-7011, [Jugnet, Yvette -- Dupont, Celine -- Ehret, Eric -- Aires, Francisco J. Cadete Santos] Univ Lyon 1, CNRS, UMR 5256, Inst Rech Catalyse & Environm Lyon, F-69626 Villeurbanne, France -- [Loffreda, David -- Dupont, Celine -- Delbecq, Francoise] Univ Lyon, CNRS, UMR 5182, Ecole Normale Super Lyon,Lab Chim, F-69364 Lyon 07, France -- [Mun, Bongjin S.] Hanyang Univ, ERICA, Dept Appl Phys, Seoul 426791, South Korea -- [Akgul, Funda Aksoy] Nigde Univ, Fac Arts & Sci, Dept Phys, TR-51240 Nigde, Turkey -- [Akgul, Funda Aksoy -- Liu, Zhi] Univ Calif Berkeley, Lawrence Berkeley Natl Lab, Adv Light Source, Berkeley, CA 94720 USA, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-École normale supérieure - Lyon (ENS Lyon)-Institut de Chimie du CNRS (INC)
Subjects: chemistry.chemical_element, Context (language use), Nanotechnology, [CHIM.CATA]Chemical Sciences/Catalysis, 02 engineering and technology, 010402 general chemistry, 021001 nanoscience & nanotechnology, [SDE.ES]Environmental Sciences/Environmental and Society, 7. Clean energy, 01 natural sciences, Oxygen, Atomic units, 0-Belirlenecek, 0104 chemical sciences, Catalysis, chemistry, Chemical engineering, X-ray photoelectron spectroscopy, General Materials Science, Density functional theory, Physical and Theoretical Chemistry, 0210 nano-technology, Bimetallic strip, Ambient pressure
Abstract: WOS: 000312762900007, PubMed ID: 26291100, The knowledge of the catalyst active phase on the atomic scale under realistic working conditions is the key for designing new and more efficient materials. In this context, the investigation of CO oxidation on the bimetallic Pt3Sn(111) surfaces by near-ambient-pressure X-ray photoelectron spectroscopy and density functional theory calculations illustrates how combining advanced methodologies allows the determination of the nature of the active phase. Starting from 300 K and 500 mTorr of oxygen, the progressive formation of surface oxides is observed with increasing temperature: SnO, PtO units first, and SnO2, PtO2 units afterward. For CO oxidation on the (2 X 2) surface, the activity gain is assigned to the build-up of ultrathin domains composed of SnO and SnO2 units. The formation of these early stage surface oxides is entirely supported by a density functional theory analysis. More generally, this study demonstrates how the catalyst surface oxidation and transformation can be better controlled by a relevant choice of environmental conditions., Office of Science, Office of Basic Energy Sciences, U.S. Department of Energy [DE-AC02-05CH11231]; Agence Nationale de la Recherche (ANR) [ANR-08-BLAN-0096-03], This research was partially carried out at the Advanced Light Source supported by the Director, Office of Science, Office of Basic Energy Sciences, U.S. Department of Energy under contract DE-AC02-05CH11231. Y.J. acknowledges U. Bardi (Firenze University) for providing the Pt3Sn(111) sample and the Agence Nationale de la Recherche (ANR) for financial support (ANR-08-BLAN-0096-03). D.L., C.D., and F.D. thank IDRIS, Orsay, CINES, Montpellier and PSMN, Lyon for CPU time and assistance.
Published: 2012

31. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Author: Céline Dupont, Sandrine Passemard, Clarisse Baumann, Alain Verloes, Géraldine Viot, Aurélie Coussement, Brigitte Benzacken, Anne-Claude Tabet, Jean-Michel Dupont, Jonathan I. Levy, Fabien Guimiot, Yline Capri, Eva Pipiras, and Séverine Drunat
Subjects: 0301 basic medicine, Male, Microcephaly, Genetic counseling, Developmental Disabilities, Receptors, Cytoplasmic and Nuclear, Prenatal diagnosis, Biology, Karyopherins, Contiguous gene syndrome, 03 medical and health sciences, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Brain, Infant, Nuclear Proteins, Microdeletion syndrome, medicine.disease, Magnetic Resonance Imaging, 2p15p16.1 microdeletion syndrome, Repressor Proteins, 030104 developmental biology, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, Speech delay, Autism, Female, Ubiquitin-Specific Proteases, medicine.symptom, Chromosome Deletion, Carrier Proteins
Abstract: Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at 2p15 and 2p16.1 loci. Nevertheless, patients with deletion of both critical regions shared similar features of the phenotype and the correlation genotype–phenotype is still unclear. We review all published cases and describe three additional patients, to define the phenotype–genotype correlation more precisely. We reported on two patients including the first prenatal case described so far, carrying a 2p15 deletion affecting two genes: XPO1 and part of USP34. Both patients shared similar features including facial dysmorphism and cerebral abnormalities. We considered the genes involved in the deleted segment to further understand the abnormal phenotype. The third case we described here was a 4-year-old boy with a heterozygous de novo 427 kb deletion encompassing BCL11A and PAPOLG at 2p16.1. He displayed speech delay, autistic traits, and motor stereotypies associated with brain structure abnormalities. We discuss the contribution of the genes included in the deletion to the abnormal phenotype. Our three new patients compared to previous cases, highlighted that despite two critical regions, both distal deletion at 2p16.1 and proximal deletion at 2p15 are associated with phenotypes that are very close to each other. Finally, we also discuss the genetic counseling of this microdeletion syndrome particularly in the course of prenatal diagnosis.
Published: 2016

32. Severe Hypotonia, Nystagmus and Hypomyelination in A 9-Month Female Infant: Diagnosing Pelizaeus–Merzbacher Disease Outside the Usual Inheritance Patterns

Author: Panagiotis Krepis, Despina N Maritsi, Odile Boespflug-Tanguy, George Vartzelis, Céline Dupont, Maria Nikolaidou, and Julien Masliah-Planchon
Subjects: Mutation, Pathology, medicine.medical_specialty, Proteolipid protein 1, business.industry, Nystagmus, Disease, medicine.disease_cause, Bioinformatics, Hypotonia, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Myelin sheath, medicine, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Pelizaeus-Merzbacher disease is a rare X-linked recessive disorder regarding the defective myelin sheath formation in the CNS neurons due to mutations of the proteolipid protein 1 gene (PLP1). Even though it is predominant in males, affected females have been found to represent a small proportion in the medical literature 1. A wide variety of PLP1 mutations have been reported as a cause. Herein, we describe the case of a 9-month-old female with (bearing) the typical features of the disease who was found to have a rare mutation.
Published: 2016

33. Structure of TiO2 (011) revealed by photoelectron diffraction

Author: Céline Dupont, Luca Floreano, Alberto Verdini, P. Le Fèvre, Sylvie Bourgeois, Bruno Domenichini, Laboratoire Interdisciplinaire Carnot de Bourgogne (LICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire Carnot de Bourgogne [Dijon] (LICB), Université de Bourgogne (UB)-Université de Technologie de Belfort-Montbeliard (UTBM)-Centre National de la Recherche Scientifique (CNRS), Pathogènes Hydriques Santé Environnement (PHySE ), Hydrosciences Montpellier (HSM), Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'automatique et de génie des procédés (LAGEP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École Supérieure Chimie Physique Électronique de Lyon-Centre National de la Recherche Scientifique (CNRS), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), Laboratorio Nazionale TASC-INFM, ELETTRA SYNCHROTRON LIGHT SOURCE, Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB), Université de Technologie de Belfort-Montbeliard (UTBM)-Université de Bourgogne (UB)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), and Université de Lyon-Université de Lyon-École Supérieure de Chimie Physique Électronique de Lyon (CPE)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Surface (mathematics), Diffraction, Materials science, photoelectron diffraction, Scattering, Structure (category theory), 02 engineering and technology, 021001 nanoscience & nanotechnology, 01 natural sciences, Molecular physics, anatase-TiO2(101), [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, 0103 physical sciences, [CHIM]Chemical Sciences, Density functional theory, 010306 general physics, 0210 nano-technology, ComputingMilieux_MISCELLANEOUS
Abstract: The combination of photoelectron diffraction, density functional theory, and multiple scattering calculations is used for a quantitative analysis of the widely debated structure of ${\mathrm{TiO}}_{2}$ (011). The modeling of the diffraction patterns for different surface reconstructions allows one to discriminate the key structural constraints required or, on the contrary, prohibited in the reconstruction of this termination. In particular, photodiffraction rules out previously proposed reconstructions while it evidences the key feature of the ${\mathrm{TiO}}_{2}$ (011) termination: an oxygen splitting induced by missing rows.
Published: 2016

34. Deep HDS of FCC gasoline over alumina supported CoMoS catalyst: Inhibiting effects of carbon monoxide and water

Author: Antoine Daudin, Sylvette Brunet, Pascal Raybaud, Céline Dupont, Elodie Devers, Florian Pelardy, Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Poitiers-Institut de Chimie du CNRS (INC), IFP Energies nouvelles (IFPEN), and Université de Poitiers-Centre National de la Recherche Scientifique (CNRS)
Subjects: Edge sites, FCC gasoline, Inorganic chemistry, 02 engineering and technology, 010402 general chemistry, 7. Clean energy, 01 natural sciences, Catalysis, chemistry.chemical_compound, Adsorption, Molecule, [CHIM]Chemical Sciences, Olefin hydrogenation, Gasoline, Carbon monoxide, ComputingMilieux_MISCELLANEOUS, General Environmental Science, Hydrodesulfurization, Chemistry, Process Chemistry and Technology, CoMoS/Al2O3, [CHIM.CATA]Chemical Sciences/Catalysis, 021001 nanoscience & nanotechnology, 0104 chemical sciences, Density functional theory, 0210 nano-technology, Selectivity
Abstract: International audience; The selective hydrodesulfurization (HDS) of FCC gasoline is a key catalytic process for reducing sulfur content in gasoline. In the present work, we focus on the effect of H2O amount alone or in mixture with CO on the transformation of a model FCC gasoline composed of 2-methylthiophene (2MT) and 2,3-dimethylbut-2-ene (23DMB2N) molecules, over an alumina supported CoMoS catalyst. A negative impact of water and CO on the conversion of 2MT and 23DMB2N is found. However the effect in the presence of CO is much stronger. The comparison of Density Functional Theory (DFT) calculations of CO and water adsorption on the S- and M-edge sites of the CoMoS slabs shows a significantly stronger CO adsorption energy than water adsorption energy. When CO and water were introduced simultaneously, the negative impact observed in the transformation of the model feed is mainly due only to the presence of CO. However whatever the oxygenated molecules used and their amount, no impact in the selectivity measured by the ratio between the activity in hydrodesulfurization and in hydrogenation is observed.
Published: 2016

35. Application of a new molecular technique for the genetic evaluation of products of conception

Author: Céline Dupont, Francesca Romana Grati, Devika Ganesamoorthy, Howard R. Slater, François Vialard, Giuseppe Simoni, Anne Claude Tabet, Fabien Guimiot, Anna Maria Ruggeri, Francesca Malvestiti, Denise Molina Gomes, Livia Marcato, Federico Maggi, Eleonore Blondeel, Laurence Loeuillet, R. Wainer, Simona De Toffol, and Azzedine Aboura
Subjects: Genetics, Bacterial artificial chromosome, Contig, medicine.diagnostic_test, Obstetrics and Gynecology, Aneuploidy, Karyotype, Molecular Technique, Gold standard (test), Biology, medicine.disease, Products of conception, medicine, Genetics (clinical), Genetic testing
Abstract: Objectives: Karyotyping is a well-established method of investigating the genetic content of product of conceptions (POCs). Because of the high rate of culture failure and maternal cell contamination, failed results or 46,XX findings are often obtained. Different molecular approaches that are not culture dependent have been proposed to circumvent these limits. On the basis of the robust experience previously obtained with bacterial artificial chromosomes (BACs)-on-Beads™ (BoBs™), we evaluated the same technology that we had used for the analysis of prenatal samples on POCs. Method: KaryoLite™ BoBs™ includes 91 beads, each of which is conjugated with a composite of multiple neighboring BACs according to the hg19 assembly. It quantifies proximal and terminal regions of each chromosome arm. The study included 376 samples. Results: The failure rate was 2%, and reproducibility >99%; false-positive and false-negative rates were
Published: 2012

36. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre–Chotzen syndrome

Author: Azzedine Aboura, Emmanuel Spaggiari, Martine Sinico, Céline Dupont, A. L. Delezoide, Philippe Mabboux, and Fabien Guimiot
Subjects: Adult, animal structures, Abnormal Karyotype, Genetic Counseling, Prenatal diagnosis, Bioinformatics, Ultrasonography, Prenatal, Craniosynostosis, Fatal Outcome, Pregnancy, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetics (clinical), Comparative Genomic Hybridization, Coronal craniosynostosis, business.industry, Twist-Related Protein 1, Nuclear Proteins, General Medicine, Acrocephalosyndactylia, medicine.disease, Radiography, Cancer research, Etiology, TWIST1 gene, Female, Saethre–Chotzen syndrome, Chromosome Deletion, business, Abortion, Eugenic, Chromosomes, Human, Pair 7
Abstract: Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.
Published: 2012

37. Improved DFT Description of Intrastrand Cross-Link Formation by Inclusion of London Dispersion Corrections

Author: Elise Dumont, Chandan Patel, Céline Dupont, Laboratoire de Chimie - UMR5182 (LC), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-École normale supérieure - Lyon (ENS Lyon)-Institut de Chimie du CNRS (INC)
Subjects: Models, Molecular, Tandem, Chemistry, Hydrogen bond, DNA, 02 engineering and technology, 010402 general chemistry, 021001 nanoscience & nanotechnology, 01 natural sciences, London dispersion force, 0104 chemical sciences, Surfaces, Coatings and Films, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, Chemical physics, Covalent bond, Computational chemistry, Intramolecular force, Materials Chemistry, Nucleic Acid Conformation, Quantum Theory, Density functional theory, Physical and Theoretical Chemistry, 0210 nano-technology, Dispersion (chemistry), Vicinal
Abstract: International audience; The formation of covalent linkages between two vicinal nucleotides has been proved experimentally to constitute a particularly deleterious class of DNA lesions. These tandem lesions by essence present a competitive chemistry. The density functional theory with dispersion (DFT-D) method is shown to dramatically improve the theoretical description of the formation of a prototypical intrastrand cross-link, when compared to pure or hybrid GGA functionals which strongly deviate from the π–π self-stacking mode, as dinucleotides are artificially stabilized by the formation of unrealistic intramolecular hydrogen bonds (HBs). Inclusion of London dispersion correction restores a more realistic picture of the reactant structure and also of geometries and energies along the reaction profile. This paves the way toward a robust insilico screening of intrastrand cross-link DNA defects.
Published: 2011

38. Hydrodeoxygenation pathways catalyzed by MoS2 and NiMoS active phases: A DFT study

Author: Antoine Daudin, Pascal Raybaud, Céline Dupont, and R. Lemeur
Subjects: chemistry.chemical_classification, biology, Chemistry, Active site, Photochemistry, Aldehyde, Catalysis, Propanol, chemistry.chemical_compound, Adsorption, biology.protein, Nucleophilic substitution, Organic chemistry, Physical and Theoretical Chemistry, Hydrodeoxygenation, Bond cleavage
Abstract: Due to the increasing need for purifying renewable feeds (such as biomass effluents) by means of catalytic hydrotreatment processes, the atomic-scale understanding of the catalytic properties of transition metal sulfide active phases in the presence of oxygenated molecules becomes crucial. Using density functional theory (DFT) calculations, we evaluate the adsorption properties and the hydrodeoxygenation pathways of relevant model O-containing molecules on the M-edge sites of the MoS 2 and NiMoS active phase. We show first that the adsorption energies of methyl propanoate, propanoic acid, propanal, propanol and water are stronger on MoS 2 than on NiMoS. The interaction with the accessible Mo site is directed by the oxygen atom of either the C O group for ester and acid or the OH group for alcohol and water molecules. For propanal, the adsorption mode depends on the nature of the active site: it is found to be bidentate on NiMoS, where the C and O atoms of the carbonyl group simultaneously interact with the dual Ni Mo sites of the M-edge. The investigation into hydrodeoxygenation pathways reveals how the C O hydrogenation and the C O bond cleavage occur on transition metal sulfides. The specific adsorption mode provides a lower activation energy for the hydrogenation of propanal into propanol on NiMoS than on MoS 2 . The propanol is further deoxygenated by a nucleophilic substitution mechanism involving a sulfhydryl group and leading to a thiol intermediate before propane formation. The rate-limiting step of the aldehyde HDO process is determined by the C O bond cleavage step for which the activation energy is found smaller for NiMoS than for MoS 2 .
Published: 2011

39. Impact of CO on the transformation of a model FCC gasoline over CoMoS/Al2O3 catalysts: A combined kinetic and DFT approach

Author: Pascal Raybaud, Sylvette Brunet, Florian Pelardy, Elodie Devers, F. Bertoncini, Céline Fontaine, Céline Dupont, and Antoine Daudin
Subjects: Olefin fiber, Chemistry, Stereochemistry, Process Chemistry and Technology, Binary compound, Heterogeneous catalysis, Catalysis, chemistry.chemical_compound, Adsorption, Chemical engineering, Gasoline, Hydrodesulfurization, General Environmental Science, Carbon monoxide
Abstract: The selective hydrodesulfurization (HDS) of FCC gasoline is a key catalytic process for reducing sulfur content in gasoline. In addition, 5.75% of the European fuels used for transportation will have to incorporate biofuels, which implies that gasoline hydrotreatment will treat feeds containing various oxygenated compounds including by-products such as CO, CO2 or H2O. In the present work, we focus on the effect of CO partial pressure on the transformation of a model FCC gasoline composed of 2-methylthiophene (2MT) and 2,3-dimethylbut-2-ene (23DMB2N) molecules, over a alumina supported CoMoS catalyst. A negative and reversible impact of carbon monoxide on the conversion of 2MT and 23DMB2N is found. Moreover, the hydrodesulfurization (HDS) of 2MT alone is much more inhibited (30%) than hydrogenation (HYD) of 23DMB2N alone (10%). In contrast, when considering the model feed where 23DMB2N and 2MT are mixed together, the loss of HDS and HYD activities is comparable whatever the CO partial pressure. Density functional theory (DFT) calculations of CO adsorption on the S- and M-edge sites of the CoMoS particles show that CO adsorption is strongly favored with respect to olefin and 2MT adsorption on both types of sites, which explains its strong inhibiting effect on HYD and HDS. A rational explanation of the different inhibiting effects of CO observed on model molecules alone and model feed is proposed in correlation with the nature of the active S- and M-edge sites present on the hexagonal CoMoS particles and involved either in HDS or in HYD reactions.
Published: 2010

40. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Author: Stéphane Serero, Alain Verloes, Marion Gérard-Blanluet, Séverine Drunat, Nathalie Le Dû, Kada Krabchi, Jean-Claude Janaud, Céline Dupont, Clarisse Baumann, Annie Elbez, Azzedine Aboura, Anne-Claude Tabet, Brigitte Benzacken, Valérie Bélien, and Marie-Line Jacquemont
Subjects: Adult, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Chromosomes, Human, Pair 22, Marker chromosome, Aneuploidy, Biology, Trisomy 22, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Supernumerary, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, Genetics (clinical), Fetal Growth Retardation, medicine.diagnostic_test, Infant, Syndrome, Anatomy, medicine.disease, Cat eye syndrome, Coloboma, Phenotype, Pulmonary Veins, Female, Chromosome 22, Fluorescence in situ hybridization
Abstract: Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the ∼60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11–154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. © 2008 Wiley-Liss, Inc.
Published: 2008

41. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Author: Elissavet Konstantelou, Julien Masliah-Planchon, Florence Renaldo, Odile Boespflug-Tanguy, Cécile Pagan, Anne-Claude Tabet, George Vartzelis, Christina Kotsogianni, Céline Dupont, Eleonore Eymard-Pierre, Aurélien Trimouille, Mathilde Gay-Bellile, Séverine Drunat, Imen Dorboz, Monique Elmaleh, Samuel Quentin, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), UF de Cytogénétique, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Paediatric Neurology, 'A. & P. Kyriakou' Children's Hospital Athens, Equipe de recherche sur les traitements individualisés des cancers (ERTICa), Université d'Auvergne - Clermont-Ferrand I (UdA), Cytogénétique Médicale, CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA)-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7), Service d'imagerie pédiatrique, This work was supported by grants from ELA Foundation (2009-007I4AV2)and 'Les amis de Ianis' association (Ploudaniel, France)., and BMC, BMC
Subjects: Ataxia, Pelizaeus-Merzbacher Disease, [SDV]Life Sciences [q-bio], Biology, Bioinformatics, X-inactivation, X Chromosome Inactivation, Gene Duplication, Gene duplication, Genomic Segment, Genetics, medicine, Humans, Genetics(clinical), Cognitive decline, Myelin Proteolipid Protein, In Situ Hybridization, Fluorescence, Genetics (clinical), Pelizaeus–Merzbacher disease, Microarray Analysis, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 3. Good health, [SDV] Life Sciences [q-bio], Mutagenesis, Insertional, Chromosomes, Human, Pair 1, Progressive spasticity, Female, medicine.symptom, Research Article
Abstract: International audience; AbstractBackgroundPelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene is located in Xq22, PMD affects mostly boys.Methods and resultsHere we report the case of a girl with typical PMD. Copy number analysis of the PLP1 locus revealed a duplication of the entire gene and FISH analysis showed that the extra copy of the PLP1 gene was actually inserted in chromosome 1p36. This insertion of an additional copy of PLP1 in an autosome led to a functional duplication irrespective of the X-inactivation pattern. Subsequent overexpression of PLP1 was the cause of the PMD phenotype observed in this girl. Further sequencing of the breakpoint junction revealed a microhomology and thus suggested a replication based mechanism (such as FoSTeS or MMBIR).ConclusionThis case emphasizes the susceptibility of the PLP1 locus to complex rearrangement likely driven by the Xq22 local genomic architecture. In addition, careful consideration should be given to girls with classical PMD clinical features since they usually experience complex PLP1 genomic alteration with a distinct risk of inheritance.
Published: 2015

42. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Author: Céline Dupont, Richard Delorme, Sandrine Passemard, Laurence Perrin, Gudrun Nygren, Delphine Héron, Marion Leboyer, Azzedine Aboura, Françoise Devillard, Anne-Claude Tabet, Christopher Gillberg, Marion Pilorge, Catalina Betancur, Brigitte Benzacken, Aurélia Jacquette, Jean-Pierre Siffroi, Mary Coleman, Andrée Delahaye, Pierre Bitoun, Elsa Delaby, Alain Verloes, Marion Gérard, Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Neurosciences Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Gillberg Neuropsychiatry Centre [Göteborg, Sueden], Institute of Neuroscience and Physiology [Göteborg]-University of Gothenburg (GU), Pôle Couple-Enfant, Département de Génétique et Procréation, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Neurologie, Hôpital Robert Debré, Groupe de recherche clinique 'déficience intellectuelle et autisme', Université Pierre et Marie Curie - Paris 6 (UPMC), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Cytogénétiqué, Hôpital Jean-Verdier, Service de Pédiatrie [Jean Verdier], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Foundation for Autism Research, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, AP HP, Reprod Biol Unit CECOS, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by Fondation de France, INSERM, and Institut de France., Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Gillberg Neuropsychiatry Centre, University of Gothenburg (GU), CHU de Grenoble, Hôpital Couple-Enfant, Département de Génétique et Procréation, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique [Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Service de Génétique et d'Embryologie Médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Centre Hospitalier Universitaire Jean Verdier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Betancur, Catalina
Subjects: de novo, CNV, translocation, autism spectrum disorder, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Bioinformatics, duplication Wolf-Hirschhorn region, Autism Diagnostic Observation Schedule, inversion, Developmental Neuroscience, Dysmorphic feature, balanced chromosomal rearrangement, mental disorders, Gene duplication, Intellectual disability, medicine, copy number variant, Copy-number variation, deletion, Molecular Biology, Genetics, RFX3, SNP microarray, [SDV.GEN]Life Sciences [q-bio]/Genetics, 2q37 deletion syndrome, Research, 7q21.3q22.1 deletion, 18p11.22p11.31 deletion, medicine.disease, Human genetics, 3. Good health, karyotype, Psychiatry and Mental health, duplication, Autism spectrum disorder, Developmental Biology, SNP array
Abstract: Background:\ud Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we performed microarray analysis of 18 patients with ASD carrying balanced chromosomal abnormalities to identify submicroscopic imbalances implicated in abnormal neurodevelopment.\ud \ud Methods:\ud Eighteen patients with ASD carrying apparently balanced chromosomal abnormalities were screened using single nucleotide polymorphism (SNP) arrays. Nine rearrangements were de novo, seven inherited, and two of unknown inheritance. Genomic imbalances were confirmed by fluorescence in situ hybridization and quantitative PCR.\ud \ud Results:\ud We detected clinically significant de novo copy number variants in four patients (22%), including three with de novo rearrangements and one with an inherited abnormality. The sizes ranged from 3.3 to 4.9 Mb; three were related to the breakpoint regions and one occurred elsewhere. We report a patient with a duplication of the Wolf-Hirschhorn syndrome critical region, contributing to the delineation of this rare genomic disorder. The patient has a chromosome 4p inverted duplication deletion, with a 0.5 Mb deletion of terminal 4p and a 4.2 Mb duplication of 4p16.2p16.3. The other cases included an apparently balanced de novo translocation t(5;18)(q12;p11.2) with a 4.2 Mb deletion at the 18p breakpoint, a subject with de novo pericentric inversion inv(11)(p14q23.2) in whom the array revealed a de novo 4.9 Mb deletion in 7q21.3q22.1, and a patient with a maternal inv(2)(q14.2q37.3) with a de novo 3.3 Mb terminal 2q deletion and a 4.2 Mb duplication at the proximal breakpoint. In addition, we identified a rare de novo deletion of unknown significance on a chromosome unrelated to the initial rearrangement, disrupting a single gene, RFX3.\ud \ud Conclusions: \ud These findings underscore the utility of SNP arrays for investigating apparently balanced chromosomal abnormalities in subjects with ASD or related neurodevelopmental disorders in both clinical and research settings.
Published: 2015

43. Interaction of Mo(CO) 6 and its derivative fragments with the Cu(001) surface: Influence on the decomposition process

Author: Xiaowen Wan, Céline Dupont, M. Petukhov, Peter Krüger, Laboratoire Interdisciplinaire Carnot de Bourgogne (ICB), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Université de Technologie de Belfort-Montbeliard (UTBM)-Université de Bourgogne (UB)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie de Lyon, École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon
Subjects: Exothermic reaction, Chemistry, Chemical process of decomposition, Inorganic chemistry, chemistry.chemical_element, Condensed Matter Physics, Endothermic process, Atomic and Molecular Physics, and Optics, Dissociation (chemistry), symbols.namesake, Adsorption, Molybdenum, Desorption, symbols, Physical chemistry, [CHIM]Chemical Sciences, Physical and Theoretical Chemistry, van der Waals force
Abstract: A theoretical study on the adsorption and decomposition of molybdenum carbonyl on the copper (001) surface is reported. The adsorption structures and energies of Mo(CO)n molecules (n = 1 … 6) are computed systematically using density functional theory with Van der Waals corrections. By analyzing the energies of the various conformations, the main factors that determine the stable adsorption geometry are identified. Insight into the thermodynamics of decomposition is gained by calculating the reaction energy for dissociation of Mo(CO)n into Mo(CO)n−1 and CO. In the gas phase, this reaction is highly endothermic for all n. On the Cu surface, however, removal of the first CO group (n = 6) becomes strongly exothermic. The subsequent dissociation steps (n
Published: 2014

44. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Author: Christelle Dubourg, Joris Andrieux, Stanislas Lyonnet, Pietro Palumbo, Chantal Missirian, Alice Masurel, Brigitte Benzacken, Alain Verloes, Nathalie Marle, Anne Lise Delezoide, Clarisse Baumann, Aimé Ravel, Valérie Malan, Anne Claude Tabet, Laila El Khattabi, Muriel Holder-Espinasse, Serge Romana, Mylène Valduga, Laurence Faivre, Anne Moncla, Hélène Dessuant, Sylvie Jaillard, Jean Michel Dupont, Sonia Bouquillon, Alexandre Moerman, Séverine Drunat, Fabien Guimiot, Hubert Journel, Bruno Delobel, Massimo Carella, Sylvie Odent, Florence Demurger, Céline Dupont, Eva Pipiras, Andrée Delahaye, Marie Vermelle, Orazio Palumbo, Service de Biologie du Développement, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Service Histologie-embryologie-cytogénétique, Université Paris 13 ( UP13 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Jean Verdier, Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Département de Génétique Médicale, Systèmes de Référence Temps Espace ( SYRTE ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire de Paris-Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Département de génétique, Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ) -Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ), Service de Génétique clinique, Laboratoire de Génétique Chromosomique, Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre de Référence ' Anomalies du Développement et Syndromes Malformatifs Sud - Est PACA ', Universita degli studi di Napoli 'Parthenope' [Napoli], INSERM EMI0210 ( EMI0210 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Instituto di Ricovero e Cura a Carattere Scientifico, Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), AP HP, Reprod Biol Unit CECOS, Centre Hospitalier Universitaire Jean Verdier, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Systèmes de Référence Temps Espace (SYRTE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Università degli Studi di Napoli 'Parthenope' = University of Naples (PARTHENOPE), INSERM EMI0210 (EMI0210), Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris 13 (UP13)-Hôpital Jean Verdier [AP-HP], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), PSL Research University (PSL)-PSL Research University (PSL)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], and Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)
Subjects: Adult, Male, Adolescent, [SDV]Life Sciences [q-bio], Penetrance, Bioinformatics, Polymorphism, Single Nucleotide, Article, Pregnancy, GRIK2, Basic Helix-Loop-Helix Transcription Factors, Genetics, Humans, SNP, Obesity, Child, Gene, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, biology, [ SDV ] Life Sciences [q-bio], Infant, Phenotype, Repressor Proteins, Child, Preschool, Aborted Fetus, SIM1, biology.protein, Chromosomes, Human, Pair 6, Female, Haploinsufficiency, Prader-Willi Syndrome, Comparative genomic hybridization
Abstract: International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84 Mb, and the fetus had the largest deletion (14 Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed.
Published: 2014

45. Self-consistent continuum solvation (SCCS): the case of charged systems

Author: Oliviero Andreussi, Céline Dupont, and Nicola Marzari
Subjects: Ions, Models, Molecular, Aqueous solution, Chemistry, Metal ions in aqueous solution, Implicit solvation, Static Electricity, Solvation, General Physics and Astronomy, Water, Electrostatics, Ion, Solvent, Solvation shell, Chemical physics, Computational chemistry, Quantum Theory, Thermodynamics, Physical and Theoretical Chemistry
Abstract: The recently developed self-consistent continuum solvation model (SCCS) [O. Andreussi, I. Dabo, and N. Marzari, J. Chem. Phys. 136, 064102 (2012)] is applied here to charged species in aqueous solutions. Describing ions in solution represents a great challenge because of the large electrostatic interactions between the solute and the solvent. The SCCS model is tested over 106 monocharged species, both cations and anions, and we demonstrate its flexibility, notwithstanding its much reduced set of parameters, to describe charged species in solution. Remarkably low mean absolute errors are obtained with values of 2.27 and 5.54 kcal/mol for cations and anions, respectively. These results are comparable or better than the state of the art to describe solvation of charged species in water. Finally, differences of behavior between cations and anions are discussed. (C) 2013 AIP Publishing LLC.
Published: 2013

46. De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability

Author: Nathalie Pouvreau, Brigitte Benzacken, Jean-François Gadisseux, Céline Dupont, Alain Verloes, Emilie Serrano, Jennifer Gallard, Anne-Claude Tabet, Karen Hernandez, and Camille Leroy
Subjects: media_common.quotation_subject, Developmental Disabilities, Receptors, Cytoplasmic and Nuclear, Polymorphism, Single Nucleotide, Non specific, Pregnancy, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Autistic features, Girl, Child, Genetics (clinical), media_common, business.industry, Point mutation, Infant, Newborn, Facies, Nuclear Proteins, medicine.disease, Infant newborn, Repressor Proteins, Child, Preschool, Female, business, Haploinsufficiency, Gene Deletion, SNP array
Abstract: We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1. The girl shows non-specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in TBL1XR1 have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that haploinsufficiency for TBL1XR1 could be implicated in non-ASD autosomal dominant ID.
Published: 2013

47. Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

Author: Anne Moncla, Laurence Perrin, Céline Dupont, Azzedine Aboura, Alain Verloes, Yline Capri, Laila El Khattabi, Dominique Chantereau, Essam Al Ageeli, Anne-Claude Tabet, Stéphane Auvin, Jennifer Fabre-Teste, Catherine Delanoë, Clarisse Baumann, and Séverine Drunat
Subjects: Male, Adolescent, Marker chromosome, Biology, Dup15q, Chromosome 15, Young Adult, Intellectual Disability, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Supernumerary, Child, Genetics (clinical), Genetic Association Studies, Retrospective Studies, Chromosome Aberrations, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Infant, General Medicine, medicine.disease, Child, Preschool, Speech delay, Autism, Female, Tandem exon duplication, medicine.symptom
Abstract: Background 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1–BP5). Duplication of this region is observed in two instances: presence of a supernumerary marker chromosome (SMC) derived of chromosome 15, or interstitial tandem duplication. Duplications are clinically characterized by a variable phenotype that includes central hypotonia, developmental delay, speech delay, seizure, minor dysmorphic features and autism. Methods Retrospective clinical and molecular study of 30 unrelated patients who were identified among the patients seen at the genetic clinics of Robert DEBRE hospital with microduplication of the 15q11-q13 region. Results Fifteen patients presented with a supernumerary marker derived from chromosome 15. In fourteen cases the SMC was of large size, encompassing the Prader–Willi/Angelman critical region. All but one was maternal in origin. One patient had a PWS-like phenotype in absence of maternal UPD. In one case, the marker had a smaller size and contained only the BP1–BP2 region. Fifteen patients presented with interstitial duplication. Four cases were inherited from phenotypically normal parents (3 maternal and 1 paternal). Phenotypic features were somewhat variable and 57% presented with autism. Twelve patients showed cerebral anomalies and 18 patients had an abnormal EEG with a typical, recognizable pattern of excessive diffuse rapid spikes in the waking record, similar to the pattern observed after benzodiazepine exposure. Duplication of paternally expressed genes MKRN3 , MAGEL2 and NDN in two autistic patients without extra material of a neighboring region enhances their likelihood to be genes related to autism.
Published: 2013

48. Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation

Author: Céline Dupont, Fabien Guimiot, Sylvie Jaillard, Chloé Quélin, Pascale Marcorelles, Khantaby Pluquailec-Bilavarn, Alain Verloes, Laurence Loeuillet, Hubert Journel, Laurent Pasquier, Anne Bazin, Suonavy Khung-Savatovsky, Josette Lucas, Azzedine Aboura, Anne-Lise Delezoide, Emmanuel Spaggiari, Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de génétique clinique, hôpital Sud, Service d'Anatomie et de Cytologie Pathologiques, CHI Poissy-Saint-Germain, Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service d'Anatomie Pathologique, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de Biologie du Développement, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, and Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes]
Subjects: Male, [SDV]Life Sciences [q-bio], Ring chromosome, Chromosome Disorders, Biology, Microphthalmia, Cutaneous syndactyly, Bifid tongue, Fetus, Gene Duplication, Genetics, medicine, Humans, Ring Chromosomes, Genetics (clinical), Genetic Association Studies, Chromosome 13, Anophthalmia, Chromosomes, Human, Pair 13, Preaxial polydactyly, Anatomy, medicine.disease, 3. Good health, Phenotype, Chromosome Inversion, Female, Chromosome Deletion, Ventriculomegaly
Abstract: International audience; Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. We report on additional three fetuses with pure inv dup del 13q: Patient 1 had macrosomia, enlarged kidneys, hypersegmented lungs, unilateral moderate ventriculomegaly, and a mild form of hand and feet preaxial polydactyly; Patient 2 had intrauterine growth retardation, widely spaced eyes, left microphthalmia, right anophthalmia, short nose, bilateral absent thumbs, cutaneous syndactyly of toes 4 and 5, bifid third metacarpal, a small left kidney, hyposegmented lungs, and partial agenesis of the corpus callosum; Patient 3 had widely spaced eyes, long and smooth philtrum, low-set ears, median notch in the upper alveolar ridge, bifid tongue, cutaneous syndactyly of toes 2 and 3, enlarged kidneys and pancreas, arhinencephaly, and partial agenesis of the corpus callosum. We compared the phenotypes of these patients to those previously reported for ring chromosome 13, pure 13q deletions and duplications. We narrowed some critical regions previously reported for lung, kidney and fetal growth, and for thumb, cerebral, and eye anomalies.
Published: 2013

49. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome

Author: Emmanuel Spaggiari, Anne-Claude Tabet, Nathalie Le Dû, Céline Dupont, Lucile Boutaud, Brigitte Benzacken, Azzedine Aboura, Clarisse Baumann, Fabien Guimiot, Yline Capri, and Elise Schaefer
Subjects: Adult, Male, Hearing loss, Hearing Loss, Sensorineural, Chromosomal translocation, In situ hybridization, Biology, Translocation, Genetic, Pregnancy, Genetics, medicine, Humans, Stickler syndrome, Child, Connective Tissue Diseases, Collagen Type II, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Arthritis, Infant, Newborn, Retinal Detachment, Karyotype, medicine.disease, Chromosome Banding, Col2a1 gene, Female, medicine.symptom, Comparative genomic hybridization
Published: 2012

50. Superior Performance of Range-Separated Hybrid Functionals for Describing \u03c3* \u2190 \u03c3 UV\u2013Vis Signatures of Three-Electron Two-Center Anions

Author: Céline Dupont, Denis Jacquemin, Elise Dumont, Laboratoire de Chimie - UMR5182 (LC), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Chimie Et Interdisciplinarité : Synthèse, Analyse, Modélisation (CEISAM), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), European Project: 278845,EC:FP7:ERC,ERC-2011-StG_20101014,MARCHES(2012), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École normale supérieure - Lyon (ENS Lyon)-Institut de Chimie du CNRS (INC), and Université de Nantes (UN)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)
Subjects: Range (particle radiation), 010304 chemical physics, Chemistry, Computation, Center (group theory), Electron, 010402 general chemistry, 01 natural sciences, 0104 chemical sciences, Hybrid functional, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, Improved performance, chemistry.chemical_compound, Ultraviolet visible spectroscopy, Computational chemistry, 0103 physical sciences, Physical chemistry, Dimethyl disulfide, Physical and Theoretical Chemistry
Abstract: International audience; We assess the efficiency of density functionals for the description of UV-vis signatures of temporary anions featuring a three-electron two-center bond, along a representative set of systems ranging from (pseudo)dihalides to disulfide radical anions (dimethyl disulfide and lipoate). While BH&HLYP and B3LYP have been predominantly applied to perform such simulations so far, we outline the significantly improved performance of several recently proposed functionals, including range-separated hybrids for the computation of these specific vertical transitions.
Published: 2012

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