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

被引:1125
作者
Boute, N
Gribouval, O
Roselli, S
Benessy, F
Lee, H
Fuchshuber, A
Dahan, K
Gubler, MC
Niaudet, P
Antignac, C
机构
[1] INSERM, U423, Paris, France
[2] Univ Paris 05, Hop Necker Enfants Malad, Serv Nephrol Pediat, Paris, France
[3] Univ Louvain, Sch Med, Ctr Human Genet, Brussels, Belgium
关键词
D O I
10.1038/74166
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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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收藏
页码:349 / 354
页数:6
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