GJB2（连接蛋白26）变异与非综合征性感音神经性听力损失：一项HuGE综述

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

作者信息

Kenneson Aileen, Van Naarden Braun Kim, Boyle Coleen

机构信息

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341-3724, USA.

出版信息

Genet Med. 2002 Jul-Aug;4(4):258-74. doi: 10.1097/00125817-200207000-00004.

DOI:10.1097/00125817-200207000-00004

PMID:12172392

Abstract

Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related to the clinical validity of genetic testing for GJB2. This review focuses primarily on three alleles: 167 Delta T, 35 Delta G, and 235 Delta C. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity.

摘要

尽管遗传性听力损失具有极大的异质性，但在某些人群中，一个基因座——缝隙连接蛋白β2（GJB2，连接蛋白26）的变异占非综合征性感音神经性听力损失病例的比例高达50%。本文综述了GJB2等位基因的遗传流行病学研究、患病率、基因型-表型关系、对听力损失发病率的贡献以及与GJB2基因检测临床有效性相关的其他问题。本综述主要关注三个等位基因：167delT、35delG和235delC。这些等位基因对于非综合征性语前感音神经性听力损失是隐性的，证据表明其具有完全外显率但表现度可变。