A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
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DOI：
10.1002/ajmg.a.36582
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发表时间：
2014-08-01
影响因子：
2
通讯作者：
Jensen, Peter Kjestrup Axel
中科院分区：
文献类型：
--
作者：
Henningsen, Emil;Svendsen, Mathias Tiedemann;Jensen, Peter Kjestrup Axel
我们报告一个2岁的女孩表现为严重形式的少汗性外胚层发育不良（HED）。患者表现为多毛、畸形、少汗、额部隆起、嘴唇和耳朵突出、皮肤干燥、苍白和皮炎。患者患有慢性鼻炎，鼻分泌物有异味。这名女孩是来自伊拉克北部的表亲移民的第二个孩子。在EDAR基因中发现了一个新的纯合突变（c.84delC）。这种突变很可能导致蛋白产物发生移码（p.S29fs*74）。这导致所有外胞质异常蛋白介导的NF-kB信号的消除。这种完全丧失功能的突变可能是导致上述患者外胚层结构出现严重临床异常的原因。(C) 2014 Wiley期刊公司
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. (C) 2014 Wiley Periodicals, Inc.