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 |
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ページ(範囲) | 649-653 |
ページ数 | 5 |
ジャーナル | British Journal of Dermatology |
巻 | 148 |
号 | 4 |
DOI | |
出版ステータス | Published - 01-04-2003 |
All Science Journal Classification (ASJC) codes
- 皮膚病学