title: Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
abstract: A clinical evaluation and Cx26 mutation analysis was performed in 92 consecutive patients with sensorineural hearing loss in order to delineate the spectrum of genetically caused hearing loss. Among patients of Austrian origin, 53% were classified with hereditary hearing loss. Cx26 mutations were found in 26% of NSHL patients (40% of familial vs 18% of sporadic cases). The mutation 35delG accounted for 52.8% of all presumed GJB2 disease alleles. The second most frequent mutation was L90P (16.7%) having been reported with a prevalence of 0.7-3.5% in other populations. Three novel mutations were found. The novel mutation, R143Q, was associated with dominant high-frequency hearing loss. Pseudodominant transmission of NSHL was seen in four families with Cx26 mutations. A mutation 35delG carrier rate of 0.9% was observed among 672 controls from West-Austria. Cx26 mutations were found associated with mild to profound, and with asymmetric hearing impairment.
authors: Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck, Austria.
authors: J
authors: J
authors: Löffler
authors: D
authors: D
authors: Nekahm
authors: A
authors: A
authors: Hirst-Stadlmann
authors: B
authors: B
authors: Günther
authors: H J
authors: HJ
authors: Menzel
authors: G
authors: G
authors: Utermann
authors: A R
authors: AR
authors: Janecke
mesh_terms: D001317:Austria; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26