Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome

Marjo Kestilä, Ulla Lenkkeri, Minna Männikkö, Jane Lamerdin, Paula McCready, Heli Putaala, Vesa Ruotsalainen, Takako Morita, Marja Nissinen, Riitta Herva, Clifford E. Kashtan, Leena Peltonen, Christer Holmberg, Anne Olsen, Karl Tryggvason

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Abstract

Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study, the 150 kb critical region of NPHS1 was sequenced, revealing the presence of at least 11 genes, the structures of 5 of which were determined. Four different mutations segregating with the disease were found in one of the genes in NPHS1 patients. The NPHS1 gene product, termed nephrin, is a 1241-residue putative transmembrane protein of the immunoglobulin family of cell adhesion molecules, which by Northern and in situ hybridization was shown to be specifically expressed in renal glomeruli. The results demonstrate a crucial role for this protein in the development or function of the kidney filtration barrier.

Original languageEnglish (US)
Pages (from-to)575-582
Number of pages8
JournalMolecular Cell
Volume1
Issue number4
DOIs
StatePublished - Mar 1998

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    Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., Kashtan, C. E., Peltonen, L., Holmberg, C., Olsen, A., & Tryggvason, K. (1998). Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome. Molecular Cell, 1(4), 575-582. https://doi.org/10.1016/S1097-2765(00)80057-X