title: A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.
abstract: Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 G-->A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.
authors.affiliation: Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Brüder, Vienna, Austria. klemens.frei@akh-wien.ac.at
authors.forename: Klemens
authors.initials: K
authors.lastname: Frei
authors.forename: Trevor
authors.initials: T
authors.lastname: Lucas
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ramsebner
authors.forename: Christian
authors.initials: C
authors.lastname: Schöfer
authors.forename: Wolf-Dieter
authors.initials: WD
authors.lastname: Baumgartner
authors.forename: Klara
authors.initials: K
authors.lastname: Weipoltshammer
authors.forename: Nihan
authors.initials: N
authors.lastname: Erginel-Unaltuna
authors.forename: Franz J
authors.initials: FJ
authors.lastname: Wachtler
authors.forename: Karin
authors.initials: K
authors.lastname: Kirschhofer
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26