ArticleJournal of cellular and molecular medicine2016
A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.
Article in Journal of cellular and molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- The same heterozygousFrontiers in genetics · 2023Article
- Identification ofFrontiers in genetics · 2022Article
- A Five Collagen-Related Gene Signature to Estimate the Prognosis and Immune Microenvironment in Clear Cell Renal Cell Cancer.Vaccines · 2021Article
- Functional assessment of a novelAnnals of translational medicine · 2021Article
- Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.Molecular genetics & genomic medicine · 2020Article
- Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused byClinical kidney journal · 2020Article
- HeterozygousBioscience reports · 2019Article
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Molecular genetics & genomic medicine · 2019Article
- A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.Journal of molecular neuroscience : MN · 2019Article
- A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State.Frontiers in genetics · 2019Article
- A Novel Heterozygous Mutation of theDisease markers · 2019Article
- Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Journal of cellular and molecular medicine · 2018Article
- Novel variants inHuman genome variation · 2018Article
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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
Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high-grade proteinuria and end-stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease-causing mutation in a four-generation Chinese family with FSGS. A novel missense mutation, c.1856G>A (p.Gly619Asp), in the collagen type IV alpha-4 gene (COL4A4) was identified in six patients and it co-segregated with the disease in this family. The variant is predicted to be disease-causing and results in collagen IV abnormalities. Our finding broadens mutation spectrum of the COL4A4 gene and extends the phenotypic spectrum of collagen IV nephropathies. Our study suggests that exome sequencing is a cost-effective and efficient approach for identification of disease-causing mutations in phenotypically complex or equivocal disorders. Timely screening for COL4A3/COL4A4 mutations in patients with familial FSGS may help both accurately diagnose and treat these patients.
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