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Link to original content: https://pubmed.ncbi.nlm.nih.gov/10742096/
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome - PubMed Skip to main page content
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. 2000 Apr;24(4):349-54.
doi: 10.1038/74166.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

N Boute  1 , O Gribouval, S Roselli, F Benessy, H Lee, A Fuchshuber, K Dahan, M C Gubler, P Niaudet, C Antignac
Affiliations

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

N Boute et al. Nat Genet. 2000 Apr.

Erratum in

  • Nat Genet 2000 May;25(1):125

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.

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