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Fig. 1 | Cilia

Fig. 1

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

Fig. 1

Phenotypic characteristics of a proband with endocrine-cerebro-osteodysplasia (ECO) syndrome caused by a new missense mutation in ICK. a Pedigree of Family 1. b Photographs and radiographs of the affected fetus. Note hydrops, tetramicromelia, narrow thorax, polydactyly with hypoplastic fingers and toes, and craniofacial anomalies including high forehead, deep set eyes, cleft lip and palate, natal teeth, multiple frenula of the upper lip, and low-set ears. c Homozygosity mapping delineated four candidate regions including one of 21 Mb on chromosome 6. Whole-exome sequencing of the fetus revealed a homozygous mismatch at position UCSC HG19 chr6: 52, 895, 863, causing one residue change p.G120C in ICK protein (NP_055735). d The mutated residue p.G120C is localized in the catalytic domain of the serine-threonine kinase ICK. The previously indentified variant p.R272Q that was found in ECO fetuses of an Old Order Amish family also resides in this domain. The glycine residue at p.120 is conserved in all vertebrate ICK homologs. CL catalytic loop; AL activation loop; NLS nuclear localization signal

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