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1. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype

Author

ALEJANDRA DARUICH, MATTHIEU P. ROBERT, CAMILLE LEROY, NATHALIE DE VERGNES, CAROLINE BEUGNET, VALERIE MALAN, SOPHIE VALLEIX, DOMINIQUE BREMOND-GIGNAC, Service d'ophtalmologie [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), Physiopathologie des maladies oculaires : innovations thérapeutiques = Physiopathology of ocular diseases: Therapeutic innovations [CRC], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), 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), Service de génétique moléculaire [CHU Necker], Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], and Gestionnaire, Hal Sorbonne Université

Subjects
[SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Genotype, PAX6 Transcription Factor, genetic structures, Vision Disorders, aniridia, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, eye diseases, Pedigree, PAX6, Ophthalmology, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, [SDV.BDD] Life Sciences [q-bio]/Development Biology, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, foveal hypoplasia, sense organs, Eye Proteins, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Retrospective Studies, iris
Abstract

International audience; Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations.Design: Retrospective case series.Methods: 95 consecutive patients with high quality Spectral-domain optical coherence tomography (SD-OCT) records and available genotype were included in a single referral center. Iris hypoplasia was classified as complete, presence of iris root or remnants and mild atypical aniridia. SD-OCT images were assessed to classify foveal hypoplasia as Grade 1 to 4 and to determine mean thicknesses for retinal layers. For statistical analysis one eye for each patient have been used and one member of the same family has been included (n=76 eyes).Results: Most eyes (93.5%) showed variable degree of foveal hypoplasia. PAX6-positive patients presented higher degree of foveal hypoplasia than patients negative for PAX6 (p

Published
2022

2. A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

Author

Marc Thiry, Christian Alfano, Férechté Encha-Razavi, Marine Driessen, Tania Attié-Bitach, Michel Vekemans, Marianne Leruez-Ville, Laurent Nguyen, Yves Ville, Thérèse Couderc, Marc Lecuit, Aurélie Beaufrère, Nicolas Thelen, Maryse Bonnière, Bettina Bessières, 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), Service de Gynécologie Obstétrique [CHU Necker], GIGA-Neurosciences [Université Liège], GIGA [Université Liège], Université de Liège-Université de Liège, Biologie des Infections - Biology of Infection, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Virologie [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), This project was funded in part by the European Union's Horizon 2020 Research and Innovation Program under ZIKAlliance Grant Agreement N° 734548 (to L.N. and M.L.) and by the LabEx IBEID, Institut Pasteur, and INSERM., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), European Project: 734548,ZIKAlliance(2016), DIAKITE, andrée, Integrative Biology of Emerging Infectious Diseases - - IBEID2010 - ANR-10-LABX-0062 - LABX - VALID, A global alliance for Zika virus control and prevention - ZIKAlliance - 2016-10-01 - 2019-09-30 - 734548 - VALID, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP]

Subjects
0301 basic medicine, Microcephaly, Pathology, [SDV]Life Sciences [q-bio], MESH: Brain/virology, Zika virus, MESH: Pregnancy, 0302 clinical medicine, Pregnancy, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, microcephaly, Research Articles, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, biology, Zika Virus Infection, General Neuroscience, MESH: Aborted Fetus/physiopathology, Brain, meningoencephalitis, Meningoencephalitis, 3. Good health, Micrencephaly, [SDV] Life Sciences [q-bio], fetus, MESH: Brain/pathology, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Aborted Fetus, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, ER stress, Meningitis, Brazil, Hydrocephalus, medicine.medical_specialty, MESH: Hydrocephalus/pathology, MESH: Microcephaly, Pathology and Forensic Medicine, ZIKV infection, 03 medical and health sciences, MESH: Zika Virus Infection/pathology, medicine, Humans, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, Fetus, MESH: Humans, business.industry, MESH: Fetus, Zika Virus, MESH: Zika Virus/pathogenicity, medicine.disease, biology.organism_classification, 030104 developmental biology, Neurology (clinical), MESH: Brazil, business, MESH: Female, micrencephaly, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; Background: The recent outbreak of Zika virus (ZIKV) infection and the associated increased prevalence of microcephaly in Brazil underline the impact of viral infections on embryo-fetal development. The aim of the present study is to provide a detailed clinical and histopathological study of the fetal disruption caused by the ZIKV, with a special focus on the associated neuropathological findings. Methods: A detailed feto-placental examination, as well as neuropathological and neurobiological studies were performed on three fetuses collected after pregnancy termination between 22 and 25 weeks of gestation (WG), because brain malforma-tions associated with a maternal and fetal ZIKV infection was diagnosed. Results: In all three cases, the maternal infection occurred during the first trimester of pregnancy. A small head was observed on the ultrasound examination of the second trimester of pregnancy and led to the diagnosis of ZIKV fetopathy and pregnancy termination. The fetal histopathological examination was unremarkable on the viscera but showed on the testis an interstitial lymphocytic infiltrate. The placenta contained a Hofbauer cells hyperplasia with signs of inflammation. Neu-ropathological findings included a meningoencephalitis and an ex vacuo hydrocepha-lus. Immunohistochemical studies showed the presence of T lymphocytic and histiocytic meningitis associated with an abundant cerebral astroglial and macrophagic reaction. In situ hybridization demonstrated, abundant ZIKV particles within the cerebral parenchyma mainly in the ventricular/subventricular zone and in the cortical plate. In addition massive cells death and endoplasmic reticulum damage were present. Conclusion: The present study reports on the clinical and histopathological findings observed in three fetuses infected by the ZIKV. It emphasizes the severity of brain damages and the minimal visceral and placental changes observed upon ZIKV infection. This confirms the selective neurotropism of ZIKV. Finally, it allows us to describe the cascade of multifactorial developmental defects leading to microcephaly.

Published
2018

3. Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

Author

Annie Laquerrière, Bénédicte Sudrié-Arnaud, Raphaël Lanos, Laetitia Trestard, Ferielle Louillet, Sophie Coutant, Florent Marguet, Stéphane Marret, Abdellah Tebani, Sophie Patrier, Soumeya Bekri, Eric Verspyck, Myriam Vezain, Foudil Lamari, Pascal Chambon, Maria Fuller, Hélène Dranguet, Françoise Broux, Anne-Claire Brehin, Isabelle Tournier, Françoise Charbonnier, Jelena Martinovic, Laboratoire de biochimie générale [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Centre hospitalier universitaire de Rouen, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Normandie Université (NU), 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), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), SA Pathology [Adelaide, SA, Australia], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique du Belvédère, Service de gynécologie et obstétrique [CHU Rouen], and Département de Pathologie [CHU Rouen]

Subjects
Adult, Polyhydramnios, 0301 basic medicine, Amniotic fluid, Clinical Biochemistry, Prenatal diagnosis, Genomics, Inborn errors of metabolism, Disease, 030105 genetics & heredity, Bioinformatics, Biochemistry, Inherited metabolic diseases, Young Adult, 03 medical and health sciences, Pregnancy, Hydrops fetalis, medicine, Humans, Non-immune hydrops fetalis, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Precision medicine, Biochemistry (medical), Computational Biology, Barth syndrome, Retrospective cohort study, Sequence Analysis, DNA, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, 030104 developmental biology, Next-generation sequencing, Female, business, Metabolism, Inborn Errors
Abstract

Purposes Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming. We have developed a next-generation sequencing (NGS) panel to investigate metabolic causes of NIHF, ascites, and polyhydramnios associated to another fetal abnormality. Methods The hydrops fetalis (HydFet) panel was designed to cover the coding regions and flanking intronic sequences of 41 genes. A retrospective study of amniotic fluid samples from 40 subjects was conducted. A prospective study was subsequently initiated, and six samples were analyzed using the NGS panel. Results Five IEM diagnoses were made using the HydFet panel (Niemann-Pick type C (NPC), Barth syndrome, HNF1Β deficiency, GM1 gangliosidosis, and Gaucher disease). This analysis also allowed the identification of 8p sequence triplication in an additional case. Conclusion NGS combined with robust bioinformatics analyses is a useful tool for identifying the causative variants of NIHF. Subsequent functional characterization of the protein encoded by the altered gene and morphological studies may confirm the diagnosis. This paradigm shift allows a significant improvement of IEM diagnosis in NIHF.

Published
2018

4. Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

Author

Daniel Pouly, Laurence Loeuillet, Joelle Roume, Xianghong Shan, Sophie Saunier, Alexandre Benmerah, Marion Failler, Marijn Stokman, Brigitte Leroy, Jelena Martinovic, Mohammadjavad Paydar, Isabel Filges, Virginie Magry, Marine Alves, Cheryl Y. Gregory-Evans, Benjamin H. Kwok, Marion Delous, John S. Allingham, Madeline Louise Reilly, Julia Tantau, Jacqueline R. Hellinga, Rachel H. Giles, Cécile Jeanpierre, Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Utrecht University [Utrecht], Institut de Recherche en Immunologie et en Cancérologie [UdeM-Montréal] (IRIC), Université de Montréal (UdeM), Queen's University [Kingston, Canada], Service de foetopathologie [Béclère], Université Paris-Sud - Paris 11 (UP11)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Stéroides et système nerveux : physiopathologie moléculaire et clinique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Service d'Anatomie et de Cytologie Pathologiques [Poissy], CHI Poissy-Saint-Germain, Service de génétique [Poissy], University of British Columbia (UBC), University of Basel (Unibas), University Medical Center [Utrecht], This work was supported by the Fondation pour la Recherche Médicale (DEQ20130326532 to SS), the European Union’sSeventh Framework Programme (FP7/2007–2013) grant 305608 (EURenOmics, CJ), the GIS-Institut desMaladies Rares (AMA11025KSA to CJ and SS), the CIHR, NSERC, CCSRI, and FRQS (BK), the SwissNational Science Foundation (SNSF, IF), the Dutch Kidney Foundation KOUNCIL consortium(CP11.18). The Imagine Institute is supported by an ANR grant (ANR-A0-IAHU-01)., European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012), Université Paris-Sud - Paris 11 (UP11)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Benmerah, Alexandre, and European Consortium for High-Throughput Research in Rare Kidney Diseases - EURENOMICS - - EC:FP7:HEALTH2012-10-01 - 2017-09-30 - 305608 - VALID

Subjects
0301 basic medicine, Male, Microcephaly, Fluorescent Antibody Technique, Kinesins, [SDV.GEN] Life Sciences [q-bio]/Genetics, Kidney, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Ciliopathies, 0302 clinical medicine, Loss of Function Mutation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Zebrafish, Genetics (clinical), Oncogene Proteins, biology, Cilium, General Medicine, Cell biology, Pedigree, Midbody, Phenotype, Female, Kidney Diseases, General Article, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Congenital Abnormalities, 03 medical and health sciences, Structure-Activity Relationship, Ciliogenesis, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Molecular Biology, Genetic Association Studies, Cytokinesis, [SDV.GEN]Life Sciences [q-bio]/Genetics, Kidney metabolism, medicine.disease, biology.organism_classification, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Disease Models, Animal, 030104 developmental biology, Genetic Loci, Genes, Lethal, 030217 neurology & neurosurgery
Abstract

International audience; Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Syndromic microcephaly-RHD was strongly reminiscent of clinical ciliopathies, relating to defects of the primary cilium, a signalling organelle present on the surface of many quiescent cells. KIF14 encodes a mitotic kinesin, which plays a key role at the midbody during cytokinesis and has not previously been shown to be involved in cilia-related functions. Here, we analysed four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. Our functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. Analysis in human fetal tissues further revealed the accumulation of KIF14-positive midbody remnants in the lumen of ureteric bud tips indicating a shared function of KIF14 during brain and kidney development. Subsequently, analysis of a kif14 mutant zebrafish line showed a conserved role for this mitotic kinesin. Interestingly, ciliopathy-associated phenotypes were also present in mutant embryos, supporting a potential direct or indirect role for KIF14 at cilia. However, our in vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, our results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development.

Published
2018

5. Diagnostic Yield of Chromosomal Microarray Analysis in Fetuses With Isolated Increased Nuchal Translucency: A French Multicenter Study

Author

A.‐l. Coston, Thibaud Quibel, C. Le Vaillant, Claire Beneteau, Anne-Hélène Saliou, Florence Bretelle, K. Uguen, Valérie Malan, G. Le Bouar, Olivia Anselem, François Vialard, C. Fanget, Matthieu Egloff, E. Perdriolle, Fabienne Prieur, Charles Coutton, C. Muti, Bérénice Hervé, Laurent Salomon, Sylvie Jaillard, M.-C. Jacquemot, Aurélie Coussement, Michel Vekemans, Chantal Missirian, Mylène Valduga, 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), Sorbonne Université (SU), Université Paris Descartes - Paris 5 (UPD5), Gamètes, implantation, gestation (GIG), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain, CHU Pontchaillou [Rennes], 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 ), Laboratoire de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), 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]), Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Maternité Port-Royal [CHU Cochin], 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), Service de gynécologie-obstétrique [Conception], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre Hospitalier de Versailles André Mignot (CHV), Centre hospitalier universitaire de Nantes (CHU Nantes), 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 ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Sorbonne Universités, Service de gynécologie et obstétrique [Poissy - Saint-Germain-en-Laye]], 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), CHU Cochin [AP-HP], CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), 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), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), and Centre Hospitalier de Versailles (CHV)

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, CNV, Aneuploidy, Prenatal diagnosis, CMA, 030105 genetics & heredity, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Nuchal Translucency Measurement, mental disorders, medicine, Radiology, Nuclear Medicine and imaging, copy number variant, Copy-number variation, Increased nuchal translucency, 1q21.1 deletion, Gynecology, Fetus, 030219 obstetrics & reproductive medicine, prenatal diagnosis, Radiological and Ultrasound Technology, Microarray analysis techniques, business.industry, 15q11.2 deletion, Gestational age, Obstetrics and Gynecology, Retrospective cohort study, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Karyotype, General Medicine, medicine.disease, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, Reproductive Medicine, Etiology, Ploidy, business
Abstract

International audience; Objective - To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. Methods - This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). Results - In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 15q11.2 regions known to be associated with congenital heart defects. Conclusion - Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Published
2019

6. No chromosome arm unturned: in memory of Roland Berger 1934–2012

Author

M Le Coniat-Busson, Anne Hagemeijer, H. Van den Berghe, Alain Bernheim, M Gautier, Florence Nguyen-Khac, Serge Romana, Nicole Dastugue, Janet D. Rowley, Philippe Jonveaux, Christine J. Harrison, M Martineau, Olivier Bernard, Leukaemia Research Cytogenetics Group [Northern Institute for Cancer Research - Newcastle University], Northern Institute for Cancer Research [Newcastle] (NICR), Newcastle University [Newcastle]-Newcastle University [Newcastle], Section of Hematology/Oncology [Chicago], The University of Chicago Medicine, Center for the Biology of Disease, and KU Leuven (VIB), Génétique des tumeurs (U985), Institut Gustave Roussy (IGR)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cancer Sciences Unit, Faculty of Medicine, University of Southampton, UK, 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), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Hématologie [Purpan], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'hématologie biologique [CHU Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Hématologie Biologique [CHU Pitié-Salpêtrière], 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 d'Embryologie Médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]

Subjects
Chromosome Aberrations, 0303 health sciences, Cancer Research, Leukemia, business.industry, [SDV]Life Sciences [q-bio], Hematology, History, 20th Century, History, 21st Century, Pediatrics, Genealogy, 03 medical and health sciences, 0302 clinical medicine, Oncology, Physicians, 030220 oncology & carcinogenesis, Chromosome Arm, Medicine, France, business, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract

International audience

Published
2014

7. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

Author

Anne-Claude Tabet, Marion Gérard-Blanluet, Brigitte Benzacken, Jacques Elion, Nicolas Chassaing, Eva Pipiras, Serge Amselem, Pierre Bitoun, Céline Dupont, Sandrine Passemard, Annick Toutain, Alain Verloes, Samuel Quentin, Marie Legendre, Laurence Faivre, Andrée Delahaye, Frédérique Gatelais, Sophie Kaltenbach, Séverine Drunat, Pierre Gressens, Azzedine Aboura, Couvet, Sandrine, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP. Nord - Université Paris Cité, Université Paris Cité (UPCité), 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 [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Faculté de Médecine Paris-Diderot [Paris], Université Paris Diderot - Paris 7 (UPD7), CHU d'Angers [Département Urgences], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 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), Hopital Saint-Louis [AP-HP] (AP-HP), Pharmacogénétique et abords thérapeutiques des maladies héréditaires, and Université des Antilles et de la Guyane (UAG)-Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Adult, Male, Adolescent, ocular developmental anomaly, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Genetic counseling, [SDV]Life Sciences [q-bio], Gene Dosage, 16p11.2 deletion, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Gene dosage, Genome, Article, Genetics, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, YWHAE, Copy-number variation, Eye Abnormalities, Child, Gene, Genetics (clinical), Chromosome Aberrations, Comparative Genomic Hybridization, Otx Transcription Factors, Microarray analysis techniques, Genome, Human, Forkhead Transcription Factors, Syndrome, [SDV] Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, array-CGH, Human genome, FOXC1, Female, Comparative genomic hybridization, OTX2
Abstract

International audience; In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed oligonucleotide comparative genome hybridisation-based microarray analysis (array-CGH; 105A or 180K, Agilent Technologies). In four patients, array-CGH identified clinically relevant deletions encompassing a gene known to be involved in ocular development (FOXC1 or OTX2). In four other patients, we found three pathogenic deletions not classically associated with abnormal ocular morphogenesis, namely, del(17)(p13.3p13.3), del(10)(p14p15.3), and del(16)(p11.2p11.2). We also detected copy number variations of uncertain pathogenicity in two other patients. Rearranged segments ranged in size from 0.04 to 5.68 Mb. These results show that array-CGH provides a high diagnostic yield (15%) in patients with syndromal ODAs and can identify previously unknown chromosomal regions associated with these conditions. In addition to their importance for diagnosis and genetic counselling, these data may help identify genes involved in ocular development.

Published
2012

8. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Author

Laurence Colleaux, Didier Lacombe, Nicole Morichon-Delvallez, Christine Coubes, Laurent Pasquier, Serge Romana, Suzanne Chevallier, Valérie Malan, Valérie Cormier-Daire, Gwendoline Soler, Jean Soulier, Catherine Turleau, Arnold Munnich, Michel Vekemans, 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), Université Paris Descartes - Paris 5 (UPD5), Service de Génétique Clinique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Bordeaux (UB), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Imagine - Institut des maladies génétiques (IMAGINE - U1163), and COLLEAUX, Laurence

Subjects
overgrowth disorders, oncogenes, Genetic counseling, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, tumor-suppressor genes, Gene Frequency, Age Determination by Skeleton, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Growth Disorders, In Situ Hybridization, Fluorescence, 030304 developmental biology, Weaver syndrome, Sequence Deletion, Chromosome Aberrations, 0303 health sciences, Comparative Genomic Hybridization, Sotos syndrome, chromosome imbalance, 030305 genetics & heredity, Genetic Diseases, Inborn, Chromosome, Genetic Variation, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Overgrowth syndrome, array-CGH, Karyotyping, Chromosome Deletion, Gene Deletion, Comparative genomic hybridization
Abstract

International audience; Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.33), del(22)(q13) and del(5)(q35) have been identified in patients with overgrowth. Most of them, however, remain undetectable using banding karyotype analysis. In this study, we report on the analysis using a 1-Mb resolution array-based comparative genomic hybridization (CGH) of 93 patients with either a recognizable overgrowth condition (ie, Sotos syndrome or Weaver syndrome) or an unclassified overgrowth syndrome. Five clinically relevant imbalances (three duplications and two deletions) were identified and the pathogenicity of two additional anomalies (one duplication and one deletion) is discussed. Altered segments ranged in size from 0.32 to 18.2 Mb, and no recurrent abnormality was identified. These results show that array-CGH provides a high diagnostic yield in patients with overgrowth syndromes and point to novel chromosomal regions associated with these conditions. Although chromosomal deletions are usually associated with growth retardation, we found that the majority of the imbalances detected in our patients are duplications. Besides their importance for diagnosis and genetic counseling, our results may allow to delineate new contiguous gene syndromes associated with overgrowth, pointing to new genes, the deregulation of which may be responsible for growth defect.

Published
2009

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