Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T
Department of Dermatology, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
Br J Dermatol. 2003 Apr;148(4):649-53. doi: 10.1046/j.1365-2133.2003.05245.x.
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.
To define the GJB2 mutations in three Japanese patients with KID syndrome.
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.
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.
These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.
最近发现，编码连接蛋白-26（Cx26）的GJB2基因中的种系错义突变是角膜炎-鱼鳞病-耳聋（KID）综合征的病因。
确定三名日本KID综合征患者的GJB2突变。
从外周血中提取基因组DNA，用于扩增GJB2基因。直接测序和核酸内切酶消化用于突变分析和基于DNA的诊断。
我们在三名日本KID综合征患者的GJB2基因中鉴定出两个杂合错义突变（D50Y、D50N）。所有突变均位于Cx26的第一个细胞外结构域。
这些数据扩展了GJB2突变数据库，并表明Cx26的显性突变可导致日本患者患KID综合征。
