TY - JOUR
T1 - High frequency of GJB2 gene mutations in polish patients with prelingual nonsyndromic deafness
AU - Wiszniewski, W.
AU - Sobieszczanska-Radoszewska, L.
AU - Nowakowska-Szyrwinska, E.
AU - Obersztyn, E.
AU - Bal, J.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
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U2 - 10.1089/109065701753145637
DO - 10.1089/109065701753145637
M3 - Article
C2 - 11551103
AN - SCOPUS:0034863872
SN - 1090-6576
VL - 5
SP - 147
EP - 148
JO - Genetic Testing
JF - Genetic Testing
IS - 2
ER -