Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

Shinichi Yotsumoto, T. Hashiguchi, X. Chen, N. Ohtake, A. Tomitaka, H. Akamatsu, K. Matsunaga, S. Shiraishi, H. Miura, J. Adachi, T. Kanzaki

Research output: Contribution to journalArticle

65 Citations (Scopus)

Abstract

Background: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. Objectives: To define the GJB2 mutations in three Japanese patients with KID syndrome. Methods: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis and DNA-based diagnosis. Results: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. Conclusions: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.

Original languageEnglish
Pages (from-to)649-653
Number of pages5
JournalBritish Journal of Dermatology
Volume148
Issue number4
DOIs
Publication statusPublished - 01-04-2003

All Science Journal Classification (ASJC) codes

  • Dermatology

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