ArticleJournal of the American Society of Nephrology : JASN2019
Contributions of Rare Gene Variants to Familial and Sporadic FSGS.
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 57 citations in OpenAlex.
- Update on APOL1 and chronic kidney diseases in children.Pediatric nephrology (Berlin, Germany) · 2026Review
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Article
- Steroid-Resistant Focal Segmental Glomerulosclerosis with Alport-like Glomerular Basement Membrane Lesions Due to aInternational journal of molecular sciences · 2026Article
- Advances in SRNS Gene Research: From Precision Classification to Precision Diagnosis and Treatment.Biomedicines · 2026Review
- Patient-specific hiPSC-Podocytes as an in vitro model of genetic FSGS.Scientific reports · 2025Article
- Autosomal dominant focal segmental glomerulosclerosis by INF2 p.Arg218Trp and p.Ser186Pro mutations: three case reports and literature review.BMC nephrology · 2025Review
- Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.Seminars in nephrology · 2025Review
- Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.Journal of diabetes investigation · 2025Article
- Article
- Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.Journal of the American Society of Nephrology : JASN · 2025Article
- Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.Scientific reports · 2024Article
- Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.International journal of molecular sciences · 2023Article
- Genetic testing in focal segmental glomerulosclerosis: in whom and when?Clinical kidney journal · 2023Article
- The Phenotypic Spectrum ofKidney international reports · 2023Article
- Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Journal of nephrology · 2023Article
- Cytokine storm-based mechanisms for extrapulmonary manifestations of SARS-CoV-2 infection.JCI insight · 2023Article
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.Current transplantation reports · 2022Article
- Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Review
- A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.CEN case reports · 2022Article
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundOver the past two decades, the importance of genetic factors in the development of FSGS has become increasingly clear. However, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.
methodsTo investigate mutations underlying FSGS, we sequenced 662 whole exomes from individuals with sporadic or familial FSGS. After quality control, we analyzed the exome data from 363 unrelated family units with sporadic or familial FSGS and compared this to data from 363 ancestry-matched controls. We used rare variant burden tests to evaluate known disease-associated genes and potential new genes.
resultsWe validated several FSGS-associated genes that show a marked enrichment of deleterious rare variants among the cases. However, for some genes previously reported as FSGS related, we identified rare variants at similar or higher frequencies in controls. After excluding such genes, 122 of 363 cases (33.6%) had rare variants in known disease-associated genes, but 30 of 363 controls (8.3%) also harbored rare variants that would be classified as "causal" if detected in cases; applying American College of Medical Genetics filtering guidelines (to reduce the rate of false-positive claims that a variant is disease related) yielded rates of 24.2% in cases and 5.5% in controls. Highly ranked new genes include
conclusionsAlthough our analysis validated many known FSGS-causing genes, we detected a nontrivial number of purported "disease-causing" variants in controls, implying that filtering is inadequate to allow clinical diagnosis and decision making. Genetic diagnosis in patients with FSGS is complicated by the nontrivial rate of variants in known FSGS genes among people without kidney disease.
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