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High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness
W Wiszniewski1, L Sobieszczanska-Radoszewska, E Nowakowska-Szyrwinska
1Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wojtekw@imid.med.pl
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.