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… (More)
DOI: 10.1681/ASN.2011040337

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Cite this paper

@article{Ovunc2011ExomeSR, title={Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.}, author={Bugsu Ovunc and Edgar A. Otto and Virginia Vega-Warner and Pawaree Saisawat and Shazia Ashraf and Gokul Ramaswami and Hanan Mohamed Fathy and Dominik S Schoeb and Gil Chernin and Robert H. Lyons and Engin Yilmaz and Friedhelm Hildebrandt}, journal={Journal of the American Society of Nephrology : JASN}, year={2011}, volume={22 10}, pages={1815-20} }