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

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

Research output: Contribution to journalArticle

26 Citations (Scopus)

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
StatePublished - 2001
Externally publishedYes

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Industrial Oils
Deafness
Gene Frequency
Mutation
Alleles
Genetic Databases
Poland
Genes
Nonsyndromic Deafness
Population

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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.

High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness. / Wiszniewski, Wojciech; Sobieszczanska-Radoszewska, L.; Nowakowska-Szyrwinska, E.; Obersztyn, E.; Bal, J.

In: Genetic Testing, Vol. 5, No. 2, 2001, p. 147-148.

Research output: Contribution to journalArticle

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, vol. 5, no. 2, pp. 147-148.
Wiszniewski W, Sobieszczanska-Radoszewska L, Nowakowska-Szyrwinska E, Obersztyn E, Bal J. High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness. Genetic Testing. 2001;5(2):147-148.
Wiszniewski, Wojciech ; Sobieszczanska-Radoszewska, L. ; Nowakowska-Szyrwinska, E. ; Obersztyn, E. ; Bal, J. / High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness. In: Genetic Testing. 2001 ; Vol. 5, No. 2. pp. 147-148.
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