C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory function.

Proper function of the cilium requires active ciliary transport. We found a mutation in a gene associated with ciliary transport (C14ORF179) in a family with Sensenbrenner syndrome, and we show that indeed transport is disturbed in cilia of cells from Sensenbrenner patients. (By Heleen Arts, PhD http://jmg.bmj.com/content/early/2011/03/04/jmg.2011.088864.abstract?papetoc= )

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