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[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Zhou Yongan, Zeng Hongyan, Li Xiangshao, Yang Huifang, Guo Wei, Hao Ziqi, Li Pengli, Li Jiao, Zhao Xiaoli, Wang Xiang, Xia Li, Ma Siqi

Abstract excerpt

OBJECTIVE: To identify novel common mutations among patients with non-syndromic hearing loss (NSHL). METHODS: 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. RESULTS: Next generation sequencing has identified 62 mutations in 29...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27984600
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.003

Genes

GJB2
GJB3

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