A large deletion including most of GJB6 in recessive non syndromic deafness:: a digenic effect?

被引：124

作者：

Pallares-Ruiz, N

Blanchet, P

Mondain, M

Claustres, M

Roux, AF

机构：

[1] Inst Univ Rech Clin, Genet Mol Lab, F-34093 Montpellier 05, France

[2] CHU Montpellier, Dept ORL, Montpellier, France

[3] CHU Montpellier, Dept Med Genet, Montpellier, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷 / 01期

关键词：

non syndromic deafness; GJB6; GJB2; deletion; digenic;

D O I：

10.1038/sj.ejhg.5200762

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：72 / 76

页数：5

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