title: A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
abstract: Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G-->T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dominant isolated hearing loss. The resulting C202F substitution, which lies in the fourth (M4) transmembrane domain of CX26, may impair connexin oligomerisation. Finally, our study suggests that GJB2 should be screened for heterozygous mutations in patients with autosomal dominant isolated hearing impairment, whatever the severity of the disease.
authors.affiliation: Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard-Lyon I, 43 Boulevard du 11 novembre 1918, 69622 Villeurbanne, France. l-morle@univ-lyon1.fr
authors.forename: L
authors.initials: L
authors.lastname: Morlé
authors.forename: M
authors.initials: M
authors.lastname: Bozon
authors.forename: N
authors.initials: N
authors.lastname: Alloisio
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: L
authors.initials: L
authors.lastname: Collet
authors.forename: P
authors.initials: P
authors.lastname: Edery
authors.forename: J
authors.initials: J
authors.lastname: Godet
authors.forename: G
authors.initials: G
authors.lastname: Lina-Granade
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26