Article
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Nature genetics - 11 Mar 2012
Louis-Dit-Picard Hélène, Barc Julien, Trujillano Daniel, Miserey-Lenkei Stéphanie, Bouatia-Naji Nabila, Pylypenko Olena, Beaurain Geneviève, Bonnefond Amélie, Sand Olivier, Simian Christophe, Vidal-Petiot Emmanuelle, Soukaseum Christelle, Mandet Chantal, Broux Françoise, Chabre Olivier, Delahousse Michel, Esnault Vincent, Fiquet Béatrice, Houillier Pascal, Bagnis Corinne Isnard, Koenig Jens, Konrad Martin, Landais Paul, Mourani Chebel, Niaudet Patrick, Probst Vincent, Thauvin Christel, Unwin Robert J, Soroka Steven D, Ehret Georg, Ossowski Stephan, Caulfield Mark, Bruneval Patrick, Estivill Xavier, Froguel Philippe, Hadchouel Juliette, Schott Jean-Jacques, Jeunemaitre Xavier
Abstract excerpt
Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected...
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