Brief Report: Mutant CHUK and Severe Fetal Encasement Malformation.
Brief Report: Mutant CHUK and Severe Fetal Encasement Malformation.
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DOI：
10.1056/nejmoa0911698
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发表时间：
2010-10-21
影响因子：
158.5
通讯作者：
Kestila, Marjo
中科院分区：
文献类型：
--
作者：
Lahtela, Jenni;Nousiainen, Heidi O.;Kestila, Marjo
我们报告了一种常染色体隐性遗传致死综合征，其特征是多个胎儿畸形，最明显的异常是有缺陷的脸和似乎没有四肢，这是绑定到躯干和包裹在皮肤下。我们采用基因表达阵列、候选基因分析、临床研究和家系调查相结合的策略，确定了导致这种综合征的分子缺陷。两个受影响胎儿的点突变导致保守的螺旋-环-螺旋遍在激酶（CHUK），也称为I（κ）B激酶（α）的丢失。CHUK在皮肤表皮及其衍生物的发育中具有重要作用，沿着各种其他形态发生事件。（由芬兰科学院和其他机构资助）。
We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. We identified the molecular defect that causes this syndrome, using a combined strategy of gene-expression arrays, candidate-gene analysis, clinical studies, and genealogic investigations. A point mutation in two affected fetuses led to the loss of the conserved helix-loop-helix ubiquitous kinase (CHUK), also known as I(kappa)B kinase (alpha). CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. (Funded by the Academy of Finland and others.).