A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

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• 作者：Machteld M. Oud ; Carine Bonnard ; Dorus A. Mans ; Umut Altunoglu ; Sumanty Tohari…
• 关键词：Endocrine ; cerebro ; osteodysplasia syndrome ; ECO ; Intestinal cell kinase ; ICK ; Short ; rib thoracic dysplasia syndrome ; SRTD ; Ciliopathy ; Ciliary defects
• 刊名：Cilia
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：5
• 期：1
• 全文大小：6,157 KB
• 刊物主题：Cell Biology; Developmental Biology; Human Genetics; Molecular Medicine; Biochemistry, general; Receptors;
• 出版者：BioMed Central
• ISSN：2046-2530

文摘

Background Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology.