[连接蛋白26突变与角膜炎-鱼鳞病-耳聋（KID）综合征]
[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
作者信息
Binder Barbara, Hennies Hans Christian, Kraschl Raimund, Smolle Josef
机构信息
Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich.
出版信息
J Dtsch Dermatol Ges. 2005 Feb;3(2):105-8. doi: 10.1111/j.1610-0378.2005.04748.x.
BACKGROUND
Keratitis-ichthyosis-deafness syndrome (KID syndrome) is an extremely rare disorder. Inheritance is autosomal dominant but many cases occur sporadically following a spontaneous mutation. The cause of KID syndrome are missense mutations of the gene GJB2, encoding connexin 26.
PATIENTS AND METHODS
We clinically studied two cases of KID syndrome and extracted genomic DNA from peripheral blood.
RESULTS
The patients showed different heterozygous mutations of the connexin 26 gene and had quite different clinical courses.
CONCLUSIONS
Both patients showed heterozygous mutations of the connexin 26 gene; a different Cx26 dominant mutation can cause a very different clinical course.
背景
角膜炎 - 鱼鳞病 - 耳聋综合征（KID综合征）是一种极其罕见的疾病。其遗传方式为常染色体显性遗传，但许多病例是自发突变后散发性出现的。KID综合征的病因是编码连接蛋白26的GJB2基因发生错义突变。
患者与方法
我们对两例KID综合征患者进行了临床研究，并从外周血中提取了基因组DNA。
结果
患者显示出连接蛋白26基因不同的杂合突变，且临床病程差异很大。
结论
两名患者均显示连接蛋白26基因杂合突变；不同的Cx26显性突变可导致截然不同的临床病程。
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