Zusammenfassung
Hintergrund
Eine angeborene nichtsyndromale Schwerhörigkeit ist in etwa der Hälfte der Fälle genetisch bedingt. Eine Vielzahl von Genen, die eine Innenohrschwerhörigkeit verursachen können, wurde bereits identifiziert. Klinisch hat bisher die molekulargenetische Untersuchung des GJB2-Gens die größte Bedeutung erlangt.
Methoden
Mutationsanalysen der Gene für Connexin 26, 30 und 31 (GJB2, GJB6 und GJB3) wurden bei 67 Personen mit mittel- bis hochgradiger Schwerhörigkeit oder Surditas durchgeführt.
Ergebnisse
Bei 9% der Patienten waren im GJB2-Gen 2 pathogene Mutationen nachweisbar. In Zusammenschau mit der Stammbauminformation ergeben sich bei diesen Patienten Wiederholungsrisiken von 25–100%.
Schlussfolgerung
Betroffenen Personen sollte eine molekulargenetische Diagnostik des GJB2-Gens angeboten werden und bei Nachweis einer Mutation die individuellen Konsequenzen in der genetischen Beratung besprochen werden.
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.
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Kunstmann, E., Hildmann, A., Lautermann, J. et al. Kongenitale Schwerhörigkeit. HNO 53, 773–778 (2005). https://doi.org/10.1007/s00106-004-1159-0
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DOI: https://doi.org/10.1007/s00106-004-1159-0