Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria |
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Authors: | Ovunc Bugsu Otto Edgar A Vega-Warner Virginia Saisawat Pawaree Ashraf Shazia Ramaswami Gokul Fathy Hanan M Schoeb Dominik Chernin Gil Lyons Robert H Yilmaz Engin Hildebrandt Friedhelm |
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Institution: | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA. |
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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. |
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