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

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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.

元の言語English
ページ(範囲)649-653
ページ数5
ジャーナルBritish Journal of Dermatology
148
発行部数4
DOI
出版物ステータスPublished - 01-04-2003

All Science Journal Classification (ASJC) codes

  • Dermatology

フィンガープリント Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

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    Yotsumoto, S., Hashiguchi, T., Chen, X., Ohtake, N., Tomitaka, A., Akamatsu, H., Matsunaga, K., Shiraishi, S., Miura, H., Adachi, J., & Kanzaki, T. (2003). Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. British Journal of Dermatology, 148(4), 649-653. https://doi.org/10.1046/j.1365-2133.2003.05245.x