Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
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DOI：
10.1097/00001756-199906230-00010
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发表时间：
1999-06-23
期刊：
影响因子：
1.7
通讯作者：
Kubo, T
中科院分区：
文献类型：
--
作者：
Fuse, Y;Doi, K;Kubo, T
自从首次发现连接蛋白26(Cx26)基因突变与常染色体隐性遗传性非综合征耳聋之间的关联以来，已有研究表明该基因的几个突变可导致隐性、散发性和显性的非综合征耳聋。在20个常染色体隐性遗传性非综合征性耳聋的日本家系中，有4个发现了Cx26基因的三个新突变。在40条染色体中有7条含有233delC等位基因，在2条染色体上分别检测到Tyr136Stop(408C-&Gt；A)和Gly45Glu(134G--&Gt；A)。这些突变在散发性先天性耳聋患者(0/60)和对照组(0/100)中均未发现。这表明日本人中27.5%(11/40条染色体)的常染色体隐性遗传性非综合征性耳聋是由Cx26基因突变引起的。《神经报告》10：1853-1857(C)1999，Lippincott Williams&Wilkins.
SINCE the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene. NeuroReport 10:1853-1857 (C) 1999 Lippincott Williams & Wilkins.