Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey.
Front Biosci (Landmark Ed). 2012 Jun 1;17(6):2213-36. doi: 10.2741/4046.
More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.
超过 50%的先天性听力损失是遗传性的，其中高达 93%是单基因常染色体隐性遗传特征。一些遗传性耳聋可以通过其相关的综合征特征来识别，但在大多数情况下，听力损失是唯一的发现，并被称为非综合征性耳聋。迄今为止，在常染色体隐性非综合征性听力损失（ARNSHL）患者的 42 个基因之一中已经发现了超过 700 种不同的突变。编码连接蛋白 26 的 GJB2 基因突变使该基因成为许多人群中听力损失最常见的原因。其他相对常见的耳聋基因包括 SLC26A4、MYO15A、OTOF、TMC1、CDH23 和 TMPRSS3。在本报告中，我们总结了 ARNSHL 家族中报道的基因和突变。一些反复出现的突变存在着创始效应，但最显著的发现是极端的基因座和等位基因异质性，以及每个群体中不同的基因和突变谱。
