title: A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
abstract: 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.
authors.affiliation: Molecular Medicine Unit, St James's University Hospital, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: I
authors.initials: I
authors.lastname: Schatteman
authors.forename: H
authors.initials: H
authors.lastname: Capon
authors.forename: P J
authors.initials: PJ
authors.lastname: Van De Heyning
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000502:physiology; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000502:physiology*; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D005819:Genetic Markers; D000072259:Connexin 26