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- Title
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
- Authors
Boute, N; Gribouval, O; Roselli, S; Benessy, F; Lee, H; Fuchshuber, A; Dahan, K; Gubler, M C; Niaudet, P; Antignac, C
- Abstract
Familial idiopathic nephrotic syndromes represent a heterogeneous group of kidney disorders, and include autosomal 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 disease, NPHS2, was mapped to 1q25-31 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 membrane protein, podocin, belonging to the stomatin protein family. We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
- Publication
Nature genetics, 2000, Vol 24, Issue 4, p349
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/74166