Pallares-Ruiz Nathalie, Blanchet Patricia, Mondain Michel, Claustres Mireille, Roux Anne-Francoise
Laboratoire de Génétique Moléculaire, 34093 Montpellier cedex, France.
Eur J Hum Genet. 2002 Jan;10(1):72-6. doi: 10.1038/sj.ejhg.5200762.
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.
在所有先天性重度耳聋病例中，超过50%已知有遗传起源。大多数非综合征性听力损失（NSHL）呈常染色体隐性遗传。GJB2基因（连接蛋白26）的突变在30个基因座中占隐性非综合征性耳聋（DFNB1）的比例超过50%。其他连接蛋白基因较少涉及，本文关注的是GJB6基因（连接蛋白30）。我们发现，包含该基因的最小150 kb区域的纯合缺失会导致NSHL。更引人注目的是，该缺失与GJB2基因35delG或E47X突变的反式关联也与NSHL有关。
