High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.
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.
Wiszniewski
W
W
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wojtekw@imid.med.pl
Sobieszczanska-Radoszewska
L
L
Nowakowska-Szyrwinska
E
E
Obersztyn
E
E
Bal
J
J
D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D017384:Sequence Deletion
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26