Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

ABSTRACT:

Background

Hearing impairment is one of most frequent birth defects, which affects nearly 1 in every 1,000 live births. However, the molecular etiology of non-syndromic deafness in China is not well studied. Here, we have investigated the presence of mutations in three genes commonly mutated in non-syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China.

Methods

In total, 1,201 unrelated non-syndromic deafness patients and 300 healthy individuals were enrolled. The hearing ability was confirmed by audiologic evaluation. Three major deafness-related genes (GJB2, SLC26A4 (PDS), and mtDNA 12S rRNA) of all individuals enrolled were analyzed by Sanger sequencing.

Results

The results showed that GJB2 mutations accounted for

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC6418354 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature