title: [Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].
abstract: BACKGROUND
  About 50% of congenital non-syndromic hearing impairment is caused by genetic factors. Research on the genetics of deafness has revealed a vast number of relevant genes. Mutations in the GJB2 gene have been shown to be the most common in several populations.
  
  
  METHODS
  Mutation analysis of the genes for connexin 26, 30 and 31 (GJB2, GJB6 and GJB3) was performed in 67 patients with profound hearing loss.
  
  
  RESULTS
  Of the participants, 9% had two pathogenic mutations in the GJB2 gene. Pedigree information indicates that in these families further offspring have a 25% to a 100% chance of having hearing impairment.
  
  
  CONCLUSIONS
  Patients with non-syndromic hearing impairment should be offered molecular diagnostics of the GJB2 gene. Genetic counseling is mandatory for mutation carriers in order to advise them on the individual consequences of the gene test results.
authors.affiliation: Humangenetik der Ruhr-Universität Bochum, Bochum. erdmute.kunstmann@ruhr-uni-bochum.de
authors.forename: E
authors.initials: E
authors.lastname: Kunstmann
authors.forename: A
authors.initials: A
authors.lastname: Hildmann
authors.forename: J
authors.initials: J
authors.lastname: Lautermann
authors.forename: C
authors.initials: C
authors.lastname: Aletsee
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: H
authors.initials: H
authors.lastname: Sudhoff
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D005858:Germany / Q000453:epidemiology; D034381:Hearing Loss / Q000151:congenital* / Q000453:epidemiology / Q000378:metabolism* / Q000534:rehabilitation; D006801:Humans; D015994:Incidence; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26