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Article

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

Genetic testing - 1 Jan 2001

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 11551103
DOI: 10.1089/109065701753145637

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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