Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

ABSTRACT:

Objective

We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA).

Study design

Cross-sectional clinical genetic study.

Setting

Tertiary care outpatient otolaryngology clinic.

Methods

A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods.

Results

A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compoun

SUBMITTER: Reyes S 

PROVIDER: S-EPMC3309400 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature