title: Sudden hearing loss in a family with GJB2 related progressive deafness.
abstract: Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One specific mutation, the 35delG, has accounted for the majority of mutations detected in the GJB2 gene in Caucasian populations. Recent studies have described progression of hearing loss in a proportion of cases with GJB2 deafness. We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss.
authors.affiliation: Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Thivon & Levadias, 115 27 Athens, Greece. inchildh@otenet.gr
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Maria
authors.initials: M
authors.lastname: Theodosiou
authors.forename: George
authors.initials: G
authors.lastname: Korres
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Ferekidou
authors.forename: Aglaia
authors.initials: A
authors.lastname: Giannoulia-Karantana
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Stavros
authors.initials: S
authors.lastname: Korres
mesh_terms: D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006115:Greece; D003639:Hearing Loss, Sudden / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26