A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.
References
Hinkes, B. et al. Nat. Genet. 38, 1397–1405 (2006).
Pavenstadt, H., Kriz, W. & Kretzler, M. Physiol. Rev. 83, 253–307 (2003).
Somlo, S. & Mundel, P. Nat. Genet. 24, 333–335 (2000).
Tryggvason, K., Patrakka, J. & Wartiovaara, J. N. Engl. J. Med. 354, 1387–1401 (2006).
Mucha, B. et al. Pediatr. Res. 59, 325–331 (2006).
Zenker, M. et al. Hum. Mol. Genet. 13, 2625–2632 (2004).
Kaplan, J.M. et al. Nat. Genet. 24, 251–256 (2000).
Kestila, M. et al. Mol. Cell 1, 575–582 (1998).
Boute, N. et al. Nat. Genet. 24, 349–354 (2000).
Winn, M.P. et al. Science 308, 1801–1804 (2005).
Reiser, J. et al. Nat. Genet. 37, 739–744 (2005).
Wing, M.R., Bourdon, D.M. & Harden, T.K. Mol. Interv. 3, 273–280 (2003).
Liu, X.L. et al. FEBS J. 272, 228–243 (2005).
Lehtonen, S. et al. Proc. Natl. Acad. Sci. USA 102, 9814–9819 (2005).
Li, S. et al. Mol. Cell. Biol. 20, 697–701 (2000).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Quaggin, S. A new piece in the nephrotic puzzle. Nat Genet 38, 1360–1361 (2006). https://doi.org/10.1038/ng1206-1360
Issue Date:
DOI: https://doi.org/10.1038/ng1206-1360
- Springer Nature America, Inc.