GJB2 (Connexin 26) mutations and childhood deafness in Thailand

Takayuki Kudo, Katsuhisa Ikeda, Takeshi Ohshima, Shigeo Kure, Maliwan Tammasaeng, Suchitra Prasansuk, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

Abstract

Hypothesis: The purpose of this study was to elucidate whether GJB2 mutations are responsible for childhood deafness in Southeast Asia. Background: GJB2 mutations are responsible for a large part of childhood deafness in many countries. In Whites, there is a common mutation (35delG) that accounts for about 70 to 80% of the GJB2 mutations. Previously, we and others reported a common GJB2 mutation (235delC) in Japanese patients with prelingual deafness. The association of the 235delC mutation with a single haplotype suggested a founder effect of the mutation. Methods: We analyzed the GJB2 gene in 17 deaf patients from 12 unrelated families in Thailand. Genomic DNA was extracted from peripheral lymphocytes of each patient and the entire coding region of the GJB2 gene was sequenced. Results: GJB2 mutations were found in 4 patients in 3 families. Patient 1 was a homozygote of 235delC. Patient 2 was a compound heterozygote of 235delC and W24X (7IG → A). Patient 3A and 3B (in 1 family) were heterozygotes of a novel mutation M34L (100A → T). Conclusion: The 235delC mutation may be widely distributed in Asian countries outside of Japan.

Original languageEnglish
Pages (from-to)858-861
Number of pages4
JournalOtology and Neurotology
Volume22
Issue number6
DOIs
Publication statusPublished - 2001 Jan 1

Keywords

  • Connexin 26
  • Deafness
  • GJB2
  • Mutation

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology

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