ArticleBMC nephrology2008
NPHS2 variation in focal and segmental glomerulosclerosis.
Article in BMC nephrology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.International urology and nephrology · 2014Pooled it
- Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis ofProceedings of the National Academy of Sciences of the United States of America · 2026Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations.Kidney medicine · 2024Article
- Estimation of the Age of the Kashubian-Specific PathogenicHuman mutation · 2024Article
- Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study.Journal of pediatric genetics · 2022Article
- Association BetweenFrontiers in medicine · 2022Article
- The tissue proteome in the multi-omic landscape of kidney disease.Nature reviews. Nephrology · 2021Review
- A no-nonsense approach to hereditary kidney disease.Pediatric nephrology (Berlin, Germany) · 2020Review
- Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations.Frontiers in genetics · 2020Article
- Podocin and uPAR are good biomarkers in cases of Focal and segmental glomerulosclerosis in pediatric renal biopsies.PloS one · 2019Article
- The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.Communications biology · 2019Article
- Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2018Article
- Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Clinical kidney journal · 2018Article
- Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach.Frontiers in medicine · 2018Review
- Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Molecular medicine reports · 2018Article
- Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Clinical and experimental nephrology · 2017Article
- R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome.International journal of nephrology · 2017Article
- Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2015Article
- Familial FSGS.Advances in chronic kidney disease · 2014Review
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Authors and funding
15 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundFocal and segmental glomerulosclerosis (FSGS) is the most common histologic pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS.
methodsWe studied the spectrum of genetic variation in 371 individuals with predominantly late onset FSGS (mean age of onset 25 years) by analysis of DNA samples.
resultsWe identified 15 non-synonymous alleles that changed the amino acid sequence in 63 of the subjects screened (17%). Eight of these (p.R138Q, p.V180M, p.R229Q, p.E237Q, p.A242V, p.A284V, p.L327F and the frameshift 855-856 delAA) are alleles previously reported to cause FSGS in either the homozygous or compound heterozygous states, while the remaining 7 (p.R10T, p.V127W, p.Q215X, p.T232I, p.L270F, p.L312V and the frameshift 397delA) are novel alleles that have not been demonstrated previously. Twelve individuals of the 371 (3.2%) screened had two likely disease-causing NPHS2 alleles, present in either a homozygous or compound heterozygous state. We genotyped the two most common of the non-synonymous NPHS2 alleles (p.A242V and p.R229Q) identified by resequencing in participants from the Nurses' Health Study and also genotyped p.R229Q in 3 diabetic cohorts. We found that the presence of either of these variants does not significantly alter the risk of albuminuria in the Nurses' Health participants, nor does p.R229Q associate with "diabetic nephropathy".
conclusionNPHS2 mutations are a rare cause of FSGS in adults. The most common non-synonymous NPHS2 variants, p.R229Q and p.A242V, do not appear to alter the risk of proteinuria in the general population nor does p.R229Q associate with measures of kidney dysfunction in diabetic individuals. Our results help clarify the frequency of FSGS-causing NPHS2 mutations in adults and broaden our understanding of the spectrum of NPHS2 mutations that lead to human disease.
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