Petersen M B, Willems P J
Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x.
Non-syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal-recessive genes are responsible for about 80% of the cases of hereditary non-syndromic deafness of pre-lingual onset with 23 different genes identified to date. In the present article, we review these 23 genes, their function, and their contribution to genetic deafness in different populations. The wide range of functions of these DFNB genes reflects the heterogeneity of the genes involved in hearing and hearing loss. Several of these genes are involved in both recessive and dominant deafness, or in both non-syndromic and syndromic deafness. Mutations in the GJB2 gene encoding connexin 26 are responsible for as much as 50% of pre-lingual, recessive deafness. By contrast, mutations in most of the other DFNB genes have so far been detected in only a small number of families, and their contribution to deafness on a population scale might therefore be limited. Identification of all genes involved in hereditary hearing loss will help in our understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy.
非综合征性耳聋是遗传异质性的一个范例，迄今已报道了85个基因座和39个核疾病基因。常染色体隐性基因约占80%的语前遗传性非综合征性耳聋病例，迄今已鉴定出23个不同的基因。在本文中，我们综述这23个基因、它们的功能以及它们在不同人群中对遗传性耳聋的作用。这些DFNB基因的广泛功能反映了参与听力和听力损失的基因的异质性。其中一些基因既参与隐性耳聋也参与显性耳聋，或既参与非综合征性耳聋也参与综合征性耳聋。编码连接蛋白26的GJB2基因突变导致高达50%的语前隐性耳聋。相比之下，到目前为止，在其他大多数DFNB基因中仅在少数家族中检测到突变，因此它们在人群层面上对耳聋的作用可能有限。鉴定所有参与遗传性听力损失的基因将有助于我们理解正常听力的基本机制，以及早期诊断和治疗。
