title: [Connexin26 and -30 in the Cochlea and their clinical relevance].
abstract: BACKGROUND
  Gap junction channels consist of different connexin proteins and play an important role in the physiology of hearing. Connexin26 and connexin30 have been demonstrated in the inner ear by immunohistochemistry and Northern Blot analysis. Mutations in the genes for connexin26 and connexin30 have been described to be responsible for non-syndromic hearing loss.
  
  
  METHODS
  We investigated the prevalence of connexin26 and connexin30 mutations in patients with profound hearing loss or deafness by SSCP-analysis and sequencing.
  
  
  RESULTS
  30 connexin26 mutations (22 %) were detected among 134 patients with profound hearing loss or deafness. The most frequent connexin26 mutation 30delG was found in 25 patients. In 5 patients other connexin26 mutations were identified. No connexin30 mutation was found.
  
  
  CONCLUSIONS
  Therefore connexin26 mutations also play an important role for non-syndromic hearing loss in Germany. We propose that every patient with suspected hereditary hearing loss should be screened for a connexin26 mutation.
authors.affiliation: Universitäts-Hals-, Nasen-, Ohrenklinik Essen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Lautermann
authors.forename: H D
authors.initials: HD
authors.lastname: Gabriel
authors.forename: P
authors.initials: P
authors.lastname: Kupsch
authors.forename: E
authors.initials: E
authors.lastname: Winterhager
authors.forename: K
authors.initials: K
authors.lastname: Jahnke
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D007758:Ear, Inner / Q000196:embryology / Q000473:pathology*; D005260:Female; D017629:Gap Junctions / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D051381:Rats; D017208:Rats, Wistar
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26