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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Prasad, Megana K ; Geoffroy, Véronique ; Vicaire, Serge ; Jost, Bernard ; Dumas, Michael ; Le Gras, Stéphanie ; Switala, Marzena ; Gasse, Barbara ; Laugel-Haushalter, Virginie ; Paschaki, Marie ; Leheup, Bruno ; Droz, Dominique ; Dalstein, Amelie ; Loing, Adeline ; Grollemund, Bruno ; Muller-Bolla, Michèle ; Lopez-Cazaux, Séréna ; Minoux, Maryline ; Jung, Sophie ; Obry, Frédéric ; Vogt, Vincent ; Davideau, Jean-Luc ; Davit-Beal, Tiphaine ; Kaiser, Anne-Sophie ; Moog, Ute ; Richard, Béatrice ; Morrier, Jean-Jacques ; Duprez, Jean-Pierre ; Odent, Sylvie ; Bailleul-Forestier, Isabelle ; Rousset, Monique Marie ; Merametdijan, Laure ; Toutain, Annick ; Joseph, Clara ; Giuliano, Fabienne ; Dahlet, Jean-Christophe ; Courval, Aymeric ; El Alloussi, Mustapha ; Laouina, Samir ; Soskin, Sylvie ; Guffon, Nathalie ; Dieux, Anne ; Doray, Bérénice ; Feierabend, Stephanie ; Ginglinger, Emmanuelle ; Fournier, Benjamin ; de la Dure Molla, Muriel ; Alembik, Yves ; Tardieu, Corinne ; Clauss, François ; Berdal, Ariane ; Stoetzel, Corinne ; Manière, Marie Cécile ; Dollfus, Hélène ; Bloch-Zupan, Agnès

Journal of medical genetics, 2016-02, Vol.53 (2), p.98-110 [Revista revisada por pares]

England: BMJ Publishing Group LTD

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Autor: Prasad, Megana K ; Geoffroy, Véronique ; Vicaire, Serge ; Jost, Bernard ; Dumas, Michael ; Le Gras, Stéphanie ; Switala, Marzena ; Gasse, Barbara ; Laugel-Haushalter, Virginie ; Paschaki, Marie ; Leheup, Bruno ; Droz, Dominique ; Dalstein, Amelie ; Loing, Adeline ; Grollemund, Bruno ; Muller-Bolla, Michèle ; Lopez-Cazaux, Séréna ; Minoux, Maryline ; Jung, Sophie ; Obry, Frédéric ; Vogt, Vincent ; Davideau, Jean-Luc ; Davit-Beal, Tiphaine ; Kaiser, Anne-Sophie ; Moog, Ute ; Richard, Béatrice ; Morrier, Jean-Jacques ; Duprez, Jean-Pierre ; Odent, Sylvie ; Bailleul-Forestier, Isabelle ; Rousset, Monique Marie ; Merametdijan, Laure ; Toutain, Annick ; Joseph, Clara ; Giuliano, Fabienne ; Dahlet, Jean-Christophe ; Courval, Aymeric ; El Alloussi, Mustapha ; Laouina, Samir ; Soskin, Sylvie ; Guffon, Nathalie ; Dieux, Anne ; Doray, Bérénice ; Feierabend, Stephanie ; Ginglinger, Emmanuelle ; Fournier, Benjamin ; de la Dure Molla, Muriel ; Alembik, Yves ; Tardieu, Corinne ; Clauss, François ; Berdal, Ariane ; Stoetzel, Corinne ; Manière, Marie Cécile ; Dollfus, Hélène ; Bloch-Zupan, Agnès
Materias: Amelogenesis Imperfecta - genetics ; Autoantigens - genetics ; Chromosome Deletion ; Chromosome Disorders - genetics ; Chromosomes, Human, Pair 11 - genetics ; Cohort Studies ; Collagen Type XVII ; Coloboma - genetics ; Dentin Dysplasia - genetics ; Deoxyribonucleic acid ; Disease ; DNA ; France ; Genetic disorders ; Genomes ; Hearing Loss, Sensorineural - genetics ; High-Throughput Nucleotide Sequencing - methods ; Humans ; Laboratories ; Life Sciences ; Methods ; Mutation ; Non-Fibrillar Collagens - genetics ; Patients ; Reproducibility of Results ; Tooth Abnormalities - genetics
Es parte de: Journal of medical genetics, 2016-02, Vol.53 (2), p.98-110
Notas: PMCID: PMC4752661
Descripción: BackgroundOrodental 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.MethodsWe 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.ResultsWe 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.ConclusionsWe 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 numbersNCT01746121 and NCT02397824.
Editor: England: BMJ Publishing Group LTD
Idioma: Inglés

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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

England: BMJ Publishing Group LTD

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