Nephrology: New gene linked to kidney disease

Thursday, March 4, 2010 - 21:14 in Health & Medicine

Nephronophthisis (NPHP) is the most common genetic cause of kidney failure in children. Ten causative genes (NPHP1-NPHP9 and NPHP11), all of which generate proteins that localize to a cellular complex known as the primary cilia-centrosome complex, have been identified previously. A team of researchers has now identified an association between mutations in the XPNPEP3 gene and an NPHP-like nephropathy in two consanguineous families, one in northern Finland and one in Turkey.

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