IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Ciliopathies are diseases accounted for by alterations of cilia-dependent cellular functions. The clinical expression of ciliopathies is mostly limited to retina, kidney, brain, and bone. These organs can be affected individually or in multiple combinations, defining a wide spectrum of devastating overlapping syndromes. Studying 1,628 candidate individuals we identified homozygous IFT81 mutations in two individuals with kidney and bone anomalies and, retinal and brain lesions, respectively. The latter individual had additional biallelic mutations in PPT1, another gene for cerebro-retinal disease, questioning the respective contribution of PPT1 and IFT81 in his disease. Nevertheless, our finding suggests that IFT81 alteration causes ciliopathies. (By Drs. J. Halbritter, J. M. Rozet, I. Perrault and F. Hildebrandt, http://jmg.bmj.com/content/early/2015/08/14/jmedgenet-2014-102838 )

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