High prevalence of V37I genetic variant in the connexin‐26 (GJB2) gene among non‐syndromic hearing‐impaired and control Thai individuals

• DOI: 10.1111/j.1399-0004.2004.00325.x
• Publication Date: 2004-10-11T15:37:21Z
• Authors: D Wattanasirichai...; C Limwongse; C Jariengprasert; PT Yenchitsomanus; C Tocharoenthanaphol; W Thongnoppakhun; C Thawil; D Charoenpipop; T Pho‐iam; S Thongpradit; P Duggal
• Keywords: Proband

Hearing loss is highly prevalent with a worldwide incidence of 1–2 per 1000 newborns. Several previous studies have demonstrated that mutations connexin 26 ( Cx26 or GJB2 ) are responsible for most cases the recessive non‐syndromic sensorineural hearing (NSSHL). Certain been described frequently among various populations, which include 35delG, 167delT, and 235delC. Recently, missense mutation, V37I, was reported as pathogenic change in East Asian affected individuals. To identify genetic variants associated NSSHL Thai population, we performed mutation analysis 166 unrelated probands 205 controls. We identified seven novel . also high prevalence V37I both (11.1%) control subjects (8.5%), suggests pathologic role may be modified by other genes. Our data support show heterogeneity frequencies types within populations ethnicities before clinical significance causality can attributed to variant, functional characterization necessary.