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

ABSTRACT: 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.

SUBMITTER: Otto EA 

PROVIDER: S-EPMC2947620 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature

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

Otto Edgar A EA   Hurd Toby W TW   Airik Rannar R   Chaki Moumita M   Zhou Weibin W   Stoetzel Corinne C   Patil Suresh B SB   Levy Shawn S   Ghosh Amiya K AK   Murga-Zamalloa Carlos A CA   van Reeuwijk Jeroen J   Letteboer Stef J F SJ   Sang Liyun L   Giles Rachel H RH   Liu Qin Q   Coene Karlien L M KL   Estrada-Cuzcano Alejandro A   Collin Rob W J RW   McLaughlin Heather M HM   Held Susanne S   Kasanuki Jennifer M JM   Ramaswami Gokul G   Conte Jinny J   Lopez Irma I   Washburn Joseph J   Macdonald James J   Hu Jinghua J   Yamashita Yukiko Y   Maher Eamonn R ER   Guay-Woodford Lisa M LM   Neumann Hartmut P H HP   Obermüller Nicholas N   Koenekoop Robert K RK   Bergmann Carsten C   Bei Xiaoshu X   Lewis Richard A RA   Katsanis Nicholas N   Lopes Vanda V   Williams David S DS   Lyons Robert H RH   Dang Chi V CV   Brito Daniela A DA   Dias Mónica Bettencourt MB   Zhang Xinmin X   Cavalcoli James D JD   Nürnberg Gudrun G   Nürnberg Peter P   Pierce Eric A EA   Jackson Peter K PK   Antignac Corinne C   Saunier Sophie S   Roepman Ronald R   Dollfus Helene H   Khanna Hemant H   Hildebrandt Friedhelm F  

Nature genetics 20100912 10

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  ...[more]

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