A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)

被引:27
作者
Lench, NJ [1 ]
Markham, AF
Mueller, RF
Kelsell, DP
Smith, RJH
Willems, PJ
Schatteman, I
Capon, H
Van De Heyning, PJ
Van Camp, G
机构
[1] St James Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
[2] St James Univ Hosp, Yorkshire Reg Genet Serv, Leeds LS9 7TF, W Yorkshire, England
[3] SmithKline Beecham, Harlow CM19 5AW, Essex, England
[4] Univ Iowa, Dept Otolaryngol, Iowa City, IA 52242 USA
[5] Univ Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
基金
英国惠康基金;
关键词
DFNB1/DFNA3; connexin 26 (GJB2); sensorineural hearing loss;
D O I
10.1136/jmg.35.2.151
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:151 / 152
页数:2
相关论文
共 4 条
[1]   Connexin 26 mutations in hereditary non-syndromic sensorineural deafness [J].
Kelsell, DP ;
Dunlop, J ;
Stevens, HP ;
Lench, NJ ;
Liang, JN ;
Parry, G ;
Mueller, RF ;
Leigh, IM .
NATURE, 1997, 387 (6628) :80-83
[2]   The gap junction communication channel [J].
Kumar, NM ;
Gilula, NB .
CELL, 1996, 84 (03) :381-388
[3]  
MAW MA, 1995, AM J HUM GENET, V57, P629
[4]  
VanCamp G, 1997, AM J HUM GENET, V60, P758