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Article

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Human genetics - 1 Apr 2003

Ohtsuka Akihiro, Yuge Isamu, Kimura Shinobu, Namba Atsushi, Abe Satoko, Van Laer Lut, Van Camp Guy, Usami Shin-ichi

Abstract excerpt

Mutations in the GJB2 gene (connexin 26) are the major cause of autosomal recessive non-syndromic hearing impairment in many populations. In contrast to the volume of information regarding the involvement of GJB2 mutations in hearing impairment in populations of European ancestry, less is known regarding other ethnic groups. In this study, we analyzed the GJB2 gene for mutations in 1227 hearing-impaired Japanese...

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Source

Identifiers

PMID: 12560944
DOI: 10.1007/s00439-002-0889-x

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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