title: The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.
abstract: Recently, a 342-kb deletion involving GJB6 was associated with autosomal-recessive non-syndromic hearing loss (NSHL) and in combination with a GJB2 mutation with digenic NSHL. This deletion was the second most common mutation causing prelingual NSHL in Spain, and was frequently observed in patients from France and Israel. We screened 393 patients with NSHL being negative or heterozygous for GJB2 mutations for this GJB6 deletion using a multiplex PCR. Most patients were of Austrian (84.2%), and the other patients were of Turkish, Serbian, and Bosnian origin. None of these patients was carrying the deletion in GJB6 indicating that the occurrence of this deletion is restricted to certain populations.
authors.affiliation: Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.
authors.forename: Barbara
authors.initials: B
authors.lastname: Günther
authors.forename: Andrea
authors.initials: A
authors.lastname: Steiner
authors.forename: Doris
authors.initials: D
authors.lastname: Nekahm-Heis
authors.forename: Klaus
authors.initials: K
authors.lastname: Albegger
authors.forename: Patrick
authors.initials: P
authors.lastname: Zorowka
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Andreas
authors.initials: A
authors.lastname: Janecke
mesh_terms: D001317:Austria / Q000453:epidemiology / Q000208:ethnology; D017522:Bosnia and Herzegovina / Q000208:ethnology; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006319:Hearing Loss, Sensorineural / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D014421:Turkey / Q000208:ethnology; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D009419:Nerve Tissue Proteins; D000072259:Connexin 26; D004247:DNA