Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review

被引：75

作者：

Tsukada, Keita ^{[1
]}

Nishio, Shin-ya ^{[1
,2
]}

Hattori, Mitsuru ^{[1
]}

Usami, Shin-ichi ^{[1
,2
]}

机构：

[1] Shinshu Univ, Sch Med, Dept Otolaryngol, Matsumoto, Nagano 3908621, Japan

[2] Shinshu Univ, Sch Med, Dept Hearing Implant Sci, Matsumoto, Nagano 3908621, Japan

来源：

ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY | 2015年 / 124卷

关键词：

GJB2; SLC26A4; mutation spectrum; c.35delG; c.235delC; p.H723R; Y-chromosome; SYNDROMIC HEARING-LOSS; ENLARGED VESTIBULAR AQUEDUCT; CONNEXIN; 26; GENE; PENDRED-SYNDROME; 35DELG MUTATION; HIGH-FREQUENCY; PRELINGUAL DEAFNESS; MOLECULAR ANALYSIS; CARRIER FREQUENCY; IMPAIRED PATIENTS;

D O I：

10.1177/0003489415575060

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the reported GJB2 and SLC26A4 mutations in different populations are reviewed and considered from a human migration perspective. Methods: Fifty-two and 17 articles on GJB2 and SLC26A4 mutations, respectively, were reviewed through the PubMed database from April 1996 to September 2014. The 4 most prevalent mutations were selected and compared. A cluster analysis was subsequently performed for these selected mutations. Results: The present review of frequent mutations shows the ethnic-specific GJB2 and SLC26A4 gene mutation spectrum. A cluster analysis of the GJB2 and SLC26A4 genes revealed similarities between ethnic populations. Conclusion: The mutation spectrum reviewed in this study clearly indicated that the frequent mutations in the GJB2 and SLC26A4 genes are consistent with the founder mutation hypothesis. A comparison with the Y-chromosome phylogenetic tree indicated that these mutations may have occurred during human migration.

引用

页码：61S / 76S

页数：16