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A new piece in the nephrotic puzzle

Nature Genetics volume 38, pages 1360–1361 (2006)Cite this article

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.

On page 1397 of this issue1, Bernward Hinkes and Roger Wiggins, working in the laboratory of Friedhelm Hildebrandt, and their colleagues describe truncating mutations in PLCE1, the gene encoding phospholipase C epsilon (PLCε1), in 12 siblings from six families diagnosed with diffuse mesangial sclerosis, a devastating glomerular lesion that progresses to end-stage renal failure in the majority of affected individuals by 5 years of age. Two individuals with missense mutations also developed kidney disease, although the glomerular lesion in these individuals was focal segmental glomerulosclerosis, with a later onset of disease and slower progression.

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Figure 1: Model for glomerular disease resulting from mutations in PLCE1.

Kim Caesar

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  1. Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, 600 University Avenue, Toronto, M5G 1X5, Ontario, Canada

    Susan E Quaggin

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  1. Susan E Quaggin
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Quaggin, S. A new piece in the nephrotic puzzle. Nat Genet 38, 1360–1361 (2006). https://doi.org/10.1038/ng1206-1360

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  • DOI: https://doi.org/10.1038/ng1206-1360

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