Congenital nephrotic syndrome is a rare kidney disease in which affected infants lose protein in the urine and eventually develop kidney failure. Most cases are due to mutations in one of five genes. We have identified a mutation in a new gene, ARHGDIA, encoding Rho GDP dissociation inhibitor alpha (RhoGDIa) that is responsible for this disorder in two sisters. RhoGDIa interacts with a family of proteins called the Rho-family of small GTPases that regulate the structure and motility of cells. Our data demonstrates that the mutation in ARHGDIA disrupts the function of cells within the kidney that normally prevent the loss of protein. (By Dr. Indra Gupta, http://jmg.bmj.com/content/early/2013/02/21/jmedgenet-2012-101442 )
ARHGDIA: a novel gene implicated in nephrotic syndrome
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