Lench N J, Markham A F, Mueller R F, Kelsell D P, Smith R J, Willems P J, Schatteman I, Capon H, Van De Heyning P J, Van Camp G
Molecular Medicine Unit, St James's University Hospital, UK.
J Med Genet. 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151.
We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations.
我们报告了一个近亲结婚的摩洛哥家庭中连接蛋白26基因(Cx26)的突变,该家庭与人类染色体13q11 - q12上的DFNA3/DFNB1位点相关。受影响的个体表现出先天性、双侧性、感音神经性听力损失。我们之前在近亲结婚的巴基斯坦家庭中发现了Cx26突变。目前的这一发现表明,Cx26突变并不局限于种族和地理上不同的人群。这是一个重要的观察结果,因为它将有助于确定连接蛋白26突变对不同人群常染色体性耳聋的总体影响。