A large deletion including most of GJB6 in recessive non syndromic deafness:: a digenic effect?
A large deletion including most of GJB6 in recessive non syndromic deafness:: a digenic effect?
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DOI：
10.1038/sj.ejhg.5200762
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发表时间：
2002-01-01
影响因子：
5.2
通讯作者：
Roux, AF
中科院分区：
文献类型：
--
作者：
Pallares-Ruiz, N;Blanchet, P;Roux, AF
在所有病例中，50%以上的先天性深度耳聋具有已知的遗传起源。大多数非综合征性听力损失（NSHL）表现为常染色体隐性遗传。在30个基因座中，GJB2基因（连接蛋白26）突变占隐性非综合征性耳聋（DFNB1）的50%以上。其他连接蛋白基因很少参与，这里关注的是GJB6基因（连接蛋白30）。我们发现，包含该基因的最小150kb区域的纯合缺失导致NSHL。更引人注目的是，GJB2基因35delG或E47X突变的反式缺失也与NSHL有关。
Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci. Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL.