A novel mutation in Intestinal Cell Kinase

Oud Machteld.jpg

KOUNCIL researchers found a novel mutation in a known disease gene, Intestinal Cell Kinase (ICK). In 2009, a Canadian research group reported that a mutation in this gene leads to a lethal syndrome with cystic kidney characteristics. The article by Machteld Oud et al. that was recently published in Cilia describes a new ICK mutation that leads to a similar phenotype.

In this study patient-derived skin cells are analyzed for the localization of ICK protein. It appears that the mutation causes an abnormal accumulation of the ICK protein at the tip of the cilium. The latter is an organelle that is present on many different cell types, and is essential for a normal embryonic development. Due to the disrupted localization of ICK the cilium is unable to function properly causing this serious syndrome. 

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