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

研究成果: Article査読

70 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)649-653
ページ数5
ジャーナルBritish Journal of Dermatology
148
4
DOI
出版ステータスPublished - 01-04-2003

All Science Journal Classification (ASJC) codes

  • 皮膚病学

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