Search

Your search keyword '"Valérie Drouin-Garraud"' showing total 7 results
Start Over Author "Valérie Drouin-Garraud" Publisher elsevier bv
7 results on '"Valérie Drouin-Garraud"'

1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Cécile Jeanpierre, Kalman Tory, Olivia Boyer, Anita Burgun, Aude Servais, Remi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié-Bitach, Valerie Comier-Daire, Jean-Michel Rozet, Yaacov Frishberg, Brigitte Llanas, Michel Broyer, Nabil Mohsin, Marie-Alice Macher, Nicole Philip, Véronique Baudouin, Damian Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, Claude Guyot, Pierre Bataille, Mariet Elting, Georges Deschenes, Andrea Gropman, Geneviève Guest, Marie-France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, Albert Bensman, Anne-Marie Guerrot, Bertrand Knebelmann, Ilmay Bilge, Danièle Bruno, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Eric Bieth, Sophie Gie, Judith Goodship, Gwenaelle Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane Benoît, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, Michele Kessler, Theresa Kwon, Anine Lahoche, Audrey Laurent, Anne-Laure Leclerc, David Milford, Thomas Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadikoglu, Christine Barnerias, Anne Barthelemy, Lina Basel, Nader Bassilios, Hedi Ben Maiz, Fatma Ben Moussa, Faïza Benmati, Romain Berthaud, Aurélia Bertholet, Dominique Blanchier, Jean Jacques Boffa, Karim Bouchireb, Ihab Bouhabel, Zakaria Boukerroucha, Guylhène Bourdat-Michel, Odile Boute, Karine Brochard, Roseline Caumes, Siham Chafai Elalaoui, Bernard Chamontin, Marie Caroline Chastang, Christine Pietrement, Christine Richer, Christophe Legendre, Karin Dahan, Fabienne Dalla-Vale, Damien Thibaudin, Maxime Dauvergne, Salandre Davourie, Martin Debeukelaer, Jean Daniel Delbet, Constantinos Deltas, Denis Graber, Nadège Devillars, Boucar Diouf, Martine Doco Fenzy, Jean-Luc André, Dominique Joly, Alan Fryer, Laetitia Albano, Elisabeth Cassuto, Aline Pincon, Ana Medeira, Annabelle Chaussenot, Anne Mensire-Marinier, Francois Bouissou, Stephane Decramer, Armand Bottani, Aurélie Hummel, Alexandre Karras, Avi Katz, Christine Azema, Bénédicte Janbon, Bernard Roussel, Claude Bonniol, Christiophe Mariat, Gérard Champion, Deborah Chantreuil, Nicolas Chassaing, Christiane Mousson, Christine Baudeau, Delphine Hafdar Cuntz, Cyril Mignot, Laurene Dehoux, Didier Lacombe, Thierry Hannedouche, Elodie Mérieau, Emmanuelle Charlin, Eric Gauthier, Florent Plasse, Stanislas Faguer, Fanny Lebas, Florence Demurger, Francesco Emma, François Cartault, Geneviève Dumont, Nathalie Godefroid, Vincent Guigonis, Sophie Hillaire, Jaap Groothoff, Jan Dudley, Noémie Jourde-Chiche, Khalil El Karoui, Saoussen Krid, Krier Coudert, Larbi Bencheick, Laurent Yver, Marie-Pierre Lavocat, Le Monies De Sagazan, Valerie Leroy, Lise Thibaudin, Liz Ingulli, Lorraine Gwanmesia, Lydie Burglen, Marie-Hélène Saïd-Menthon, Marta Carrera, Mathilde Nizon, Catherine Melander, Michel Foulard, Monique Blayo, Jacques Prinseau, Nadine Jay, Nathalie Brun, Nicolas Camille, François Nobili, Olivier Devuyst, Ouafa Ben Brahim, Paloma Parvex, Laurence Perrin Sabourin, Philippe Blanc, Philippe Vanhille, Pierre Galichon, Sophie Pierrepont, Vincent Planquois, Gwenaelle Poussard, Claire Pouteil Noble, Radia Allal, Raphaelle Bernard, Raynaud Mounet, Rémi Cahen, Renaud Touraine, Claire Rigothier, Amélie Ryckewaert, Mathieu Sacquepee, Salima El Chehadeh, Charlotte Samaille, Shuman Haq, Ari Simckes, Stéphanie Lanoiselée, Stephanie Tellier, Jean-François Subra, Sylvie Cloarec, Julie Tenenbam, Thomas Lamy, Valérie Drouin Garraud, Huguette Valette, Vanina Meyssonnier, Rosa Vargas-Poussou, Yves Snajer, Sandrine Durault, Emmanuelle Plaisier, Etienne Berard, Fadi Fakhouri, Ferielle Louillet, Paul Finielz, Michel Fischbach, Bernard Foliguet, Hélène Francois-Pradier, Florentine Garaix, Marion Gerard, Gianfranco Rizzoni, Brigitte Gilbert, Denis Glotz, Astrid Godron Dubrasquet, Jean-Pierre Grünfeld, Guillaume Bollee, Michelle Hall, Sverker Hansson, Damien Haye, Hélène Taffin, Friedhelm Hildebrandt, Maryvonne Hourmand, Hümya Kayserili, Ivan Tack, Marie Line Jacquemont, Jennifer Fabre-Teste, Cliff Kashtan, Kkoen Van Hoeck, Alexandre Klein, Yannick Knefati, Nine Knoers, Martin Konrad, Alain Lachaux, Isabelle Landru, Gilbert Landthaler, Philippe Lang, Patrick Le Pogamp, Tristan Legris, Catherine Didailler, Thierry Lobbedez, Loïc de Parscau, Lucile Pinson, Hervé Maheut, Marc Duval-Arnould, Marlène Rio, Marie-Claire Gubler, Pierre Merville, Guillaume Mestrallet, Maite Meunier, Karine Moreau, Jérôme Harambat, Graeme Morgan, Georges Mourad, Niksic Stuber, Odile Boespflug-Tanguy, Olivier Dunand, Olivier Niel, Nacera Ouali, Paolo Malvezzi, Pauline Abou Jaoude, Solenne Pelletier, Julie Peltier, M.B. Petersen, Philippe Michel, Philippe Rémy, Jean-Baptiste Philit, Valérie Pichault, Thierry Billette de Villemeur, Bernard Boudailliez, Bruno Leheup, Claire Dossier, Djamal-Dine Djeddi, Yves Berland, Bruno Hurault de Ligny, Susan Rigden, Christophe Robino, Annick Rossi, Sabine Sarnacki, Messaoud Saidani, Albane Brodin Sartorius, Elise Schäfer, Sztriha Laszlo, Marie-Christine Thouret, Angélique Thuillier-Lecouf, Howard Trachtman, Claire Trivin, Michel Tsimaratos, Rita Van Damme-Lombaerts, Marjolaine Willems, Michel Youssef, Ariane Zaloszyc, Alexis Zawodnik, and Marie-Julia Ziliotis

Subjects
Nephrology
Abstract

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.

Published
2023
Full Text
View/download PDF

2. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations

Author

François Lecoquierre, Anne Boland, Valérie Drouin-Garraud, Gaël Nicolas, Thierry Frebourg, Juliette Coursimault, Jean-François Deleuze, J. Lechevallier, Anne-Claire Brehin, and Pascale Saugier-Veber

Subjects
Male, Hypersociability, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Craniofacial Abnormalities, Young Adult, Intellectual disability, Genetics, medicine, Humans, Global developmental delay, Hypertelorism, Social Behavior, Genetics (clinical), business.industry, DNA Helicases, Macrocephaly, Syndrome, General Medicine, medicine.disease, Megalencephaly, Developmental disorder, Autism spectrum disorder, Mutation, Speech delay, medicine.symptom, business, Mi-2 Nucleosome Remodeling and Deacetylase Complex
Abstract

CHD3-related syndrome, also known as Snijders Blok-Campeau syndrome, is a rare developmental disorder described in 2018, caused by de novo pathogenic variants in the CHD3 gene. This syndrome is characterized by global developmental delay, speech delay, intellectual disability, hypotonia and behavioral disorders including autism spectrum disorder (ASD). Typical dysmorphic features include macrocephaly, hypertelorism, enophthalmia, sparse eyebrows, bulging forehead, midface hypoplasia, prominent nose and pointed chin. To our knowledge, there have been no other clinical descriptions of patients since the initial publication. We report the clinical description of a 21-year-old patient harboring a pathogenic de novo variant in CHD3. We reviewed the clinical features of the 35 previously reported patients. Main features were severe intellectual disability, dysmorphic facies, macrocephaly, cryptorchidism, pectus carinatum, severe ophthalmologic abnormalities and behavioral disorders including ASD, and a frank happy demeanor. Hypersociability, which was a noticeable clinical feature in our case, despite ASD, is an uncommon behavioral feature in syndromic intellectual disabilities. Our report supports hypersociability as a suggestive feature of CHD3-related syndrome along with developmental delay, macrocephaly and a dysmorphic facies.

Published
2021
Full Text
View/download PDF

3. Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders

Author

Frédéric Anselme, Ghassan Moubarak, Arnaud Savouré, Bénédicte Godin, Bogdan Borz, Valérie Drouin-Garraud, and Arnaud Gay

Subjects
Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Ventricular tachycardia, Sudden cardiac death, LMNA, Cardiac Conduction System Disease, Heart Conduction System, Physiology (medical), Internal medicine, Cardiac conduction, medicine, Humans, Prospective Studies, Brugada Syndrome, Ejection fraction, Left bundle branch block, business.industry, Arrhythmias, Cardiac, Middle Aged, Lamin Type A, medicine.disease, Implantable cardioverter-defibrillator, Defibrillators, Implantable, Death, Sudden, Cardiac, Mutation, Ventricular Fibrillation, Ventricular fibrillation, Tachycardia, Ventricular, cardiovascular system, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Background Sudden cardiac death is frequent in patients with lamin A/C gene (LMNA) mutations and may be related to ventricular arrhythmias (VA). Objective To evaluate a strategy of prophylactic implantable cardioverter-defibrillator (ICD) implantation in LMNA mutation carriers with significant cardiac conduction disorders. Methods Forty-seven consecutive patients (mean age 38 ± 11 years; 26 men) were prospectively enrolled between March 1999 and April 2009. Prophylactic ICD implantation was performed in patients with significant cardiac conduction disorders: patients requiring permanent pacing for bradycardia or already implanted with a pacemaker at the initial presentation, or patients with a PR interval of >0.24 seconds and either complete left bundle branch block or nonsustained ventricular tachycardia. Results Twenty-one (45%) patients had significant conduction disorders and received a prophylactic ICD. Among ICD recipients, no patient died suddenly and 11 (52%) patients required appropriate ICD therapy during a median follow-up of 62 months. Left ventricular ejection fraction was ≥45% in 9 patients at the time of the event. Among the 10 patients without malignant VA, device memory recorded nonsustained ventricular tachycardia in 8 (80%). The presence of significant conduction disorders was the only factor related to the occurrence of malignant VA (hazard ratio 5.20; 95% confidence interval 1.14–23.53; P = .03). Conclusions Life-threatening VAs are common in patients with LMNA mutations and significant cardiac conduction disorders, even if left ventricular ejection fraction is preserved. ICD is an effective treatment and should be considered in this patient population.

Published
2013
Full Text
View/download PDF

4. Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations

Author

Valérie Drouin-Garraud, Andre Delahaye, François Rivier, Annick Toutain, Hélène Maurey, Bertrand Diebold, Thierry Bienvenu, Laure Raymond, Julia Metreau, Céline Leroux, Olivier Dulac, Nadia Bahi-Buisson, and Gia Melikishvili

Subjects
Male, Genetics, Mutation, Point mutation, DNA Mutational Analysis, CDKL5, Reproducibility of Results, Exons, General Medicine, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Sensitivity and Specificity, Denaturing high performance liquid chromatography, Exon, medicine, Humans, Coding region, Female, Multiplex ligation-dependent probe amplification, Gene
Abstract

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been predominantly described in epileptic encephalopathies of female, including infantile spasms with Rett-like features. Up to now, detection of mutations in this gene was made by laborious, expensive and/or time consuming methods. Here, we decided to validate high-resolution melting analysis (HRMA) for mutation scanning of the CDKL5 gene. Firstly, using a large DNA bank consisting to 34 samples carrying different mutations and polymorphisms, we validated our analytical conditions to analyse the different exons and flanking intronic sequences of the CDKL5 gene by HRMA. Secondly, we screened CDKL5 by both HRMA and denaturing high performance liquid chromatography (dHPLC) in a cohort of 135 patients with early-onset seizures. Our results showed that point mutations and small insertions and deletions can be reliably detected by HRMA. Compared to dHPLC, HRMA profiles are more discriminated, thereby decreasing unnecessary sequencing. In this study, we identified eleven novel sequence variations including four pathogenic mutations (2.96% prevalence). HRMA appears cost-effective, easy to set up, highly sensitive, non-toxic and rapid for mutation screening, ideally suited for large genes with heterogeneous mutations located along the whole coding sequence, such as the CDKL5 gene.

Published
2013
Full Text
View/download PDF

5. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Author

Natalie Loundon, Christine Francannet, Thierry Mom, Magali Niasme-Grare, Delphine Feldmann, Valérie Drouin-Garraud, Albert David, Marie-Françoise Thuillier-Obstoy, Hélène Dollfus, Françoise Duriez, Cyril Goizet, Hubert Journel, Hélène Catros, Catherine Calais, Catherine Gohler, Sandrine Marlin, Laurence Jonard, Marie Madeleine Eliot, Rémy Couderc, Françoise Denoyelle, Brigitte Gilbert-Dussardier, Erea Noel Garabedian, Crystel Bonnet, Isabelle Rouillon, and Florence Fellmann

Subjects
Adult, Male, medicine.medical_specialty, Vestibular aqueduct, Adolescent, Genetic Linkage, Hearing loss, KCNJ10, Audiology, Hearing Loss, Unilateral, Vestibular Aqueduct, Young Adult, otorhinolaryngologic diseases, medicine, Humans, Potassium Channels, Inwardly Rectifying, Child, Pendred syndrome, Polymorphism, Genetic, biology, business.industry, Infant, Newborn, Infant, Membrane Transport Proteins, Forkhead Transcription Factors, General Medicine, Anatomy, medicine.disease, Pedigree, medicine.anatomical_structure, Haplotypes, Otorhinolaryngology, FOXI1, Sulfate Transporters, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Mondini dysplasia, biology.protein, Female, sense organs, medicine.symptom, Unilateral hearing loss, business, Enlarged vestibular aqueduct
Abstract

Objective To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia). Methods We have gathered 25 patients presenting unilateral hearing impairment and ipsilateral enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1 and KCNJ10 genes sequences. Results The analysis of SLC26A4 revealed only eight heterozygous SLC26A4 sequence variants, three of them being novel (p.Met147Ile, p.Asn538Asn and p.Leu627Arg). None of the patients carried a second mutation on the other allele. Moreover, the SLC26A4 locus was excluded by segregation analysis in two families. No mutations were present in FOXI1 and KCNJ10 genes. Conclusions Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct.

Published
2010
Full Text
View/download PDF

6. Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

Author

Didier Lacombe, Nathalie Boutet, Philippe Gorry, Pierre Sarda, Yves-Jean Bignon, Michel Longy, Valérie Drouin-Garraud, Centre d'études techniques de l'équipement Ouest (CETE Ouest), Avant création Cerema, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Department of Genetics, University Hospital, Unité de Génétique Médicale et Foetopathologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Département de pathologie, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Groupe de Recherche en Economie Théorique et Appliquée (GREThA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), GORRY, Philippe, Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)

Subjects
Male, Skin Neoplasms, Basal Cell Nevus Syndrome, basal cell, carcinoma, medicine.disease_cause, Biochemistry, 0302 clinical medicine, Child, Frameshift Mutation, ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Mutation, Autosomal dominant trait, Middle Aged, 3. Good health, Patched-1 Receptor, germline mutation, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, France, Adult, Patched Receptors, Adolescent, Mutation, Missense, Nevoid basal-cell carcinoma syndrome, Receptors, Cell Surface, Dermatology, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Frameshift mutation, 03 medical and health sciences, Germline mutation, medicine, Humans, Molecular Biology, 030304 developmental biology, skin disease, Membrane Proteins, PTCH1 Gene, Cell Biology, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, stomatognathic diseases, PTCH1, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, genetic, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Gene Deletion
Abstract

Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant disease characterized by developmental abnormalities and a predisposition to cancers. The responsible gene for this syndrome is the PTCH tumor suppressor gene encoding for the Sonic Hedgehog receptor. We screened for PTCH mutations in 65 French Gorlin syndrome families or sporadic cases for the first time. Nineteen novel mutations and five new polymorphisms were identified in this group of patients. One microdeletion without frameshift underlines the importance of one amino acid for Ptc receptor function. Although no mutation hot-spot was described, we identified a recurrent mutation.

Published
2003
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results