Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify novel common mutations among patients with non-syndromic hearing loss (NSHL).</p><p><b>METHODS</b>High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation. Mutations occurring more than twice in the 18 patients were verified by Sanger sequencing. This has confirmed 15 mutations in 8 genes, including 3 missense mutations (p.C2184G, p.L2825P, p.H1888Y) which have not been reported previously. Meanwhile, p.L445W, p.D866N, and IVS919-2A>G were common causative mutations.</p><p><b>CONCLUSION</b>A number of common causative mutations, e.g., p.L445W, p.D866N, IVS919-2A>G, have been identified by high-throughput capture technology, which may facilitate the research and genetic diagnosis for hearing loss.</p>