ArticlePediatric research2019
Phospholipase C-Gamma 2 Activity in Familial Steroid-Sensitive Nephrotic Syndrome.
Article in Pediatric research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Overexpression of PLCG2 and TMEM38A inhibit tumor progression in clear cell renal cell carcinoma.Scientific reports · 2025Article
- 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
- Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancer-associated mutations.eLife · 2019Article
- Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update.Frontiers in pediatrics · 2019Review
- Genetic Deletion ofFrontiers in medicine · 2019Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial Steroid-sensitive Nephrotic Syndrome (SSNS) is rare, complicating the identification of candidate genes. A recent population-based approach study of SSNS identified HLA-DQA1 and Phospholipase C-Gamma 2 (PLCG2) missense coding variants as candidate loci. PLCG2 is a signaling molecule regulated by phosphorylation and is critical for Ca
methodsIn order to detect a candidate gene for familial SSNS, we conducted an whole-exome sequencing in a pedigree consisting of two healthy parents, two non-identical twin brothers with SSNS, and a healthy young sibling. Flow cytometric assays were conducted to investigate the effects of the identified PLCG2 rare variants on B cell receptor-mediated PLCG2 tyrosine 759 phosphorylation, as well as on Ca
resultsTwo missense rare variants in the PLCG2 gene were detected in the affected twins. An increase in tyrosine phosphorylation of PLCG2 as well as more rapid Ca
conclusionsRare variants in PLCG2 segregated with disease in familial SSNS. Functional studies suggest the combined rare variants result in a gain of function in PLCG2 activity. Taken together, these results support PLCG2 as a possible candidate locus for familial SSNS.
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