GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

ABSTRACT:

Background

Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.

Methods

In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced.

Results

A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele.

SUBMITTER: Dai P 

PROVIDER: S-EPMC2679712 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature