Prevalent connexin 26 gene (GJB2) mutations in Japanese

Satoko Abe, Shin Ichi Usami, Hideichi Shinkawa, Philip M. Kelley, William J. Kimberling

Research output: Contribution to journalArticle

308 Citations (Scopus)

Abstract

The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2 mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Of these three mutations, 235delC was most prevalent at 73%. Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations.

Original languageEnglish (US)
Pages (from-to)41-43
Number of pages3
JournalJournal of medical genetics
Volume37
Issue number1
StatePublished - May 18 2000

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Mutation
Genes
Hearing Loss
Connexin 26
Population

Keywords

  • Connexin 26
  • GJB2
  • Japanese
  • Non-syndromic hearing loss

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Abe, S., Usami, S. I., Shinkawa, H., Kelley, P. M., & Kimberling, W. J. (2000). Prevalent connexin 26 gene (GJB2) mutations in Japanese. Journal of medical genetics, 37(1), 41-43.

Prevalent connexin 26 gene (GJB2) mutations in Japanese. / Abe, Satoko; Usami, Shin Ichi; Shinkawa, Hideichi; Kelley, Philip M.; Kimberling, William J.

In: Journal of medical genetics, Vol. 37, No. 1, 18.05.2000, p. 41-43.

Research output: Contribution to journalArticle

Abe, S, Usami, SI, Shinkawa, H, Kelley, PM & Kimberling, WJ 2000, 'Prevalent connexin 26 gene (GJB2) mutations in Japanese', Journal of medical genetics, vol. 37, no. 1, pp. 41-43.
Abe S, Usami SI, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. Journal of medical genetics. 2000 May 18;37(1):41-43.
Abe, Satoko ; Usami, Shin Ichi ; Shinkawa, Hideichi ; Kelley, Philip M. ; Kimberling, William J. / Prevalent connexin 26 gene (GJB2) mutations in Japanese. In: Journal of medical genetics. 2000 ; Vol. 37, No. 1. pp. 41-43.
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