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Publication : Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

First Author	Otto EA	Year	2010
Journal	Nat Genet	Volume	42
Issue	10	Pages	840-50
PubMed ID	20835237	Mgi Jnum	J:175330
Mgi Id	MGI:5285149	Doi	10.1038/ng.662
Citation	Otto EA, et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 42(10):840-50

abstractText

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here we combined homozygosity mapping with candidate gene analysis by performing 'ciliopathy candidate exome capture' followed by massively parallel sequencing. We identified 12 different truncating mutations of SDCCAG8 (serologically defined colon cancer antigen 8, also known as CCCAP) in 10 families affected by NPHP-RC. We show that SDCCAG8 is localized at both centrioles and interacts directly with OFD1 (oral-facial-digital syndrome 1), which is associated with NPHP-RC. Depletion of sdccag8 causes kidney cysts and a body axis defect in zebrafish and induces cell polarity defects in three-dimensional renal cell cultures. This work identifies loss of SDCCAG8 function as a cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders.

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Publication : Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

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