Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.
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DOI：
10.1002/mgg3.44
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发表时间：
2014-03
影响因子：
2
通讯作者：
Alkuraya, Fowzan S
中科院分区：
文献类型：
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作者：
Alazami, Anas M;Seidahmed, Mohammed Zain;Alzahrani, Fatema;Mohammed, Adam O;Alkuraya, Fowzan S
颅外胚层发育不良（CED）是一种非常罕见的常染色体隐性遗传疾病，其特征是除了涉及皮肤、毛发和牙齿的外胚层表现外，还具有可识别的颅面轮廓。已知在这种疾病中有四个基因发生突变，所有基因都参与纤毛内鞭毛转运，证实CED是一种纤毛病。在一个具有典型CED特征的多重血缘家族中，除了智力残疾和严重的皮肤拉克萨外，我们还使用了自合性指导的候选基因分析来鉴定IFFT 122中的一种新的纯合突变，并证明患者成纤维细胞中的纤毛发生受损。这份关于IFFT 122的报告拓宽了CED的表型，并扩大了其等位基因异质性。
Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts. This report on IFT122 broadens the phenotype of CED and expands its allelic heterogeneity.