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

N J Lench; A F Markham; R F Mueller; D P Kelsell; R J Smith; P J Willems; I Schatteman; H Capon; P J Van De Heyning; G Van Camp

doi:10.1136/jmg.35.2.151

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

J Med Genet. 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151.

Authors

N J Lench¹, A F Markham, R F Mueller, D P Kelsell, R J Smith, P J Willems, I Schatteman, H Capon, P J Van De Heyning, G Van Camp

Affiliation

¹ Molecular Medicine Unit, St James's University Hospital, UK.

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Child, Preschool
Chromosomes, Human, Pair 13 / genetics
Connexin 26
Connexins / genetics*
Connexins / physiology
Consanguinity
Female
Genes, Recessive / physiology*
Genetic Linkage
Genetic Markers
Haplotypes
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / physiopathology
Humans
Infant
Male
Microsatellite Repeats
Morocco / ethnology
Mutation*
Pedigree
Sequence Analysis, DNA

Substances

Connexins
GJB2 protein, human
Genetic Markers
Connexin 26

Abstract

Publication types

MeSH terms

Substances

Grants and funding