| Autor: |
Wattanasirichaigoon, D, Limwongse, C, Jariengprasert, C, Yenchitsomanus, PT, Tocharoenthanaphol, C, Thongnoppakhun, W, Thawil, C, Charoenpipop, D, Pho-iam, T, Thongpradit, S, Duggal, P |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Nov2004, Vol. 66 Issue 5, p452-460, 9p |
| Abstrakt: |
Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus PT, Tocharoenthanaphol C, Thongnoppakhun W, Thawil C, Charoenpipop D, Pho-iam T, Thongpradit S, Duggal P. High prevalence of V37I genetic variant in theconnexin-26(GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.Hearing loss is highly prevalent with a worldwide incidence of 1–2 per 1000 newborns. Several previous studies have demonstrated that mutations of connexin 26 (Cx26orGJB2) are responsible for most cases of the recessive non-syndromic sensorineural hearing loss (NSSHL). Certain mutations have been described frequently among various populations, which include 35delG, 167delT, and 235delC. Recently, a missense mutation, V37I, was reported as a pathogenic change in East Asian affected individuals. To identify genetic variants associated with NSSHL in Thai population, we performed mutation analysis ofCx26in 166 unrelated probands with NSSHL and 205 controls. We identified seven novel genetic variants inCx26. We also identified a high prevalence of the V37I mutation among both affected probands (11.1%) and control subjects (8.5%), which suggests that the pathologic role of V37I may be modified by other genes. Our data support previous studies that show heterogeneity in the frequencies and types of mutations inCx26within populations and among ethnicities and that before clinical significance and causality can be attributed to a genetic variant, functional characterization is necessary. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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