High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness

W. Wiszniewski, L. Sobieszczanska-Radoszewska, E. Nowakowska-Szyrwinska, E. Obersztyn, J. Bal

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

We report an analysis of 102 unrelated Polish patients with profound prelingual deafness for mutations in the GJB2 gene (OMIM #220290). Mutations were found in 41/102 (40%) subjects. Among mutated alleles, 35delG was prevalent and present in 88%. In nine alleles, different mutations were found: M34T, Q47X, R184P, and 313del14 (found in 6 patients). The results prove mutations in the GJB2 gene are responsible for much hereditary nonsyndromic deafness in Poland, with a strong prevalence of the 35delG mutation. We have also found a high carrier frequency (1/50) for the 35delG mutation in the Polish population.

Original languageEnglish (US)
Pages (from-to)147-148
Number of pages2
JournalGenetic Testing
Volume5
Issue number2
DOIs
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Genetics(clinical)

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    Wiszniewski, W., Sobieszczanska-Radoszewska, L., Nowakowska-Szyrwinska, E., Obersztyn, E., & Bal, J. (2001). High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness. Genetic Testing, 5(2), 147-148. https://doi.org/10.1089/109065701753145637