title: High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.
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.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wojtekw@imid.med.pl
authors.forename: W
authors.initials: W
authors.lastname: Wiszniewski
authors.forename: L
authors.initials: L
authors.lastname: Sobieszczanska-Radoszewska
authors.forename: E
authors.initials: E
authors.lastname: Nowakowska-Szyrwinska
authors.forename: E
authors.initials: E
authors.lastname: Obersztyn
authors.forename: J
authors.initials: J
authors.lastname: Bal
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26