Genetics of Hearing Loss-Nonsyndromic

被引：47

作者：

Chang, Kay W. ^{[1
]}

机构：

[1] Stanford Univ, Dept Otolaryngol, Stanford, CA 94305 USA

来源：

OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA | 2015年 / 48卷 / 06期

关键词：

Nonsyndromic hearing loss; DFNA; DFNB; GJB2; Next-generation sequencing; Massively parallel sequencing; PENDRED-SYNDROME; AUDITORY NEUROPATHY; HAIR-CELLS; UNCONVENTIONAL MYOSIN; INDUCED DEAFNESS; WFS1; GENE; MUTATIONS; DOMINANT; IMPAIRMENT; CHILDREN;

D O I：

10.1016/j.otc.2015.06.005

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL. High-throughput sequencing techniques, also called next-generation sequencing (NGS) or massively parallel sequencing (MPS), may allow for routine definitive diagnosis of all possible genetic causes for hearing loss in the not-too-distant future.

引用

页码：1063 / +

页数：12

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