Manioc : Portail | resultats 1 - 14 pour la recherche: Le Gras, Stéphanie

Annuaire de la vie martiniquaise : 1936
Auteur(s) : Sylvestre, Emile (1...-19.. ; fonctionnaire) Lotaut, Eustache
Auteurs secondaires : Eboué, Félix (1884-1944)
Année de publication :

| Plus

Bulletin officiel de la Guyane française
Année de publication :

| Plus

La géologie et les mines de la France d'outre-mer : recueil de conférences
Auteurs secondaires : Lacroix, Alfred (1863-1948) Bureau d'études géologiques et minières (France)
Année de publication :

| Plus

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Auteur(s) : Prasad, Megana K. Geoffroy, Véronique Vicaire, Serge Jost, Bernard Dumas, Michael Le Gras, Stéphanie Switala, Marzena Gasse, Barbara
Auteurs secondaires : Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS) DNA Microarrays and Sequencing Platform ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) Evolution Paris Seine ; Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Centre National de la Recherche Scientifique (CNRS) - Université des Antilles et de la Guyane (UAG) - Université Pierre et Marie Curie - Paris 6 (UPMC) Service de médecine infantile III et génétique clinique [CHRU Nancy] ; Hôpital d'Enfants Brabois [CHRU Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) - Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) - Université de Lorraine (UL) Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - Université de Lorraine (UL) Service d'odontologie [CHU Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy) Faculté de Chirurgie Dentaire Human Genetics Institute ; Heidelberg University

Éditeur(s) : HAL CCSD
Résumé : International audience
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824
Journal of Medical Genetics

hal-01272929
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01272929
DOI : 10.1136/jmedgenet-2015-103302
PUBMED : 26502894

| Plus