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Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

ABSTRACT: In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B(12)-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule. In summary, we report successful use of exome capture and massively parallel re-sequencing to identify a rare, single-gene cause of nephropathy.

SUBMITTER: Ovunc B 

PROVIDER: S-EPMC3187182 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature

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Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Ovunc Bugsu B   Otto Edgar A EA   Vega-Warner Virginia V   Saisawat Pawaree P   Ashraf Shazia S   Ramaswami Gokul G   Fathy Hanan M HM   Schoeb Dominik D   Chernin Gil G   Lyons Robert H RH   Yilmaz Engin E   Hildebrandt Friedhelm F  

Journal of the American Society of Nephrology : JASN 20110908 10

In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form  ...[more]

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