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

ABSTRACT: 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 amelo

SUBMITTER: Prasad MK 

PROVIDER: S-EPMC4752661 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature