ArticleClinical kidney journal2015
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.
Article in Clinical kidney journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- A Novel CRB2 Mutation Associated With FSGS and ESRD in an Adult Patient.Case reports in nephrology · 2026Article
- Cytokine storm-based mechanisms for extrapulmonary manifestations of SARS-CoV-2 infection.JCI insight · 2023Article
- Analysis ofOpen access Macedonian journal of medical sciences · 2019Article
- Recent advances in kidney transplantation: a viewpoint from the Descartes advisory board.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2018Review
- Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Clinical kidney journal · 2018Article
- Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.Frontiers in pediatrics · 2018Article
- R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome.International journal of nephrology · 2017Article
- Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundMutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Compound heterozygous changes involving the podocin variant R229Q combined with another pathogenic mutation have been associated with a mild phenotype with disease onset often in adulthood.
methodsWe screened 19 families with early-onset SRNS for mutations in NPHS2 and WT1 and identified four disease-causing mutations (three in NPHS2 and one in WT1) prior to planned whole-exome sequencing.
resultsWe describe two families with three individuals presenting in childhood who are compound heterozygous for R229Q and one other pathogenic NPHS2 mutation, either L327F or A297V. One child presented at age 4 years (A297V plus R229Q) and the other two at age 13 (L327F plus R229Q), one with steadily deteriorating renal function.
conclusionsThese cases highlight the phenotypic variability associated with the NPHS2 R229Q variant plus pathogenic mutation. Individuals may present with early aggressive disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.