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nature genetics volume 24 april 2000 349 NPHS2, encoding the glomerular protein

Summary: article
nature genetics · volume 24 · april 2000 349
NPHS2, encoding the glomerular protein
podocin, is mutated in autosomal recessive
steroid-resistant nephrotic syndrome
Nicolas Boute1, Olivier Gribouval1, Séverine Roselli1, France Benessy1, Hyunjoo Lee1, Arno Fuchshuber1,
Karin Dahan3, Marie-Claire Gubler1, Patrick Niaudet2 & Corinne Antignac1
Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autoso-
mal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria,
rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. A causative gene for this dis-
ease, NPHS2, was mapped to 1q25­31 and we report here its identification by positional cloning. NPHS2 is almost
exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral mem-
brane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, com-
prising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role
for podocin in the function of the glomerular filtration barrier.
1Inserm U423, Tour Lavoisier and 2Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France. 3Center
for Human Genetics, University of Louvain Medical School, Bruxelles, Belgium. Correspondence should be sent to C.A. (e-mail: antignac@necker.fr).
Plasma ultrafiltration during primary urine formation in the
glomerulus is a central function of the kidney. The structurally


Source: Akabas, Myles - Department of Physiology and Biophysics, Albert Einstein College of Medicine, Yeshiva University


Collections: Biology and Medicine