Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia.
Department of Pediatrics, Security Forces Hospital Riyadh, Saudi Arabia.
Mol Genet Genomic Med. 2014 Mar;2(2):103-6. doi: 10.1002/mgg3.44. Epub 2013 Dec 10.
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.
颅外胚层发育不全（CED）是一种非常罕见的常染色体隐性遗传病，其特征除了以外胚层表现（包括皮肤、毛发和牙齿）外，还有可识别的颅面特征。已知有四个基因在这种疾病中发生突变，这些基因都参与纤毛内鞭毛运输，这证实了 CED 是一种纤毛病。在一个具有典型 CED 特征的多因子近亲家族中，除了智力障碍和严重的皮肤松弛症外，我们使用同源定位候选基因分析鉴定了 IFT122 中的一个新的纯合突变，并在患者成纤维细胞中证明了纤毛发生受损。IFT122 的这个报告拓宽了 CED 的表型，并扩大了其等位基因异质性。
