Mutations in NPHS2 are a rare cause of FSGS of late onset. Most (but not all) individuals with adult onset FSGS attributable to NPHS2 mutations have one p.R229Q allele. Our findings are consistent with other recent reports.[9,10] We have demonstrated that NPHS2 mutations contribute to FSGS in 8% of the familial cases and 2.8% of the sporadic cases analyzed here. Furthermore, the most commonly found polymorphisms demonstrated in NPHS2 resequencing, p.R229Q and p.A242V, do not appear to cause FSGS, nor associate with proteinuria in the homozygous or heterozygous state. In addition, p.R229Q heterozygous events do not associate with measures of kidney dysfunction in diabetic individuals, and thus p.R229Q is unlikely to represent a major genetic modifier for proteinuria.
We thank the study subjects for their participation. This work was supported by grants from the N.I.H. (DK54931 to M.P., EY44428 to K.Z.), the J.D.R.F (to S.T.). K.Z. is a Lew Wasserman Merit Award Scholar in Research to Prevent Blindness. M.P. is an Established Investigator of the American Heart Association.Reprint Address
Martin R Pollak - firstname.lastname@example.org
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Cite this: NPHS2 Variation in Focal and Segmental Glomerulosclerosis - Medscape - Sep 29, 2008.