ArticleKidney international2011
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
Article in Kidney international, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.BMC nephrology · 2023Article
- Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population.Biomolecules & biomedicine · 2023Article
- Novel deletion mutation in a Chinese family with X-linked alport syndrome.International journal of clinical and experimental pathology · 2018Article
- Identification of a novel collagen type IV alpha-4 (The Indian journal of medical research · 2016Article
- A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.Clinical kidney journal · 2015Article
- Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Molecular biology reports · 2014Article
- A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.BioMed research international · 2014Article
- The role of molecular genetics in diagnosing familial hematuria(s).Pediatric nephrology (Berlin, Germany) · 2012Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome. Affected males have proteinuria, variable hematuria, and an early progression to end-stage renal disease. Renal biopsy findings include global and segmental glomerulosclerosis, mesangial hypercellularity and basement membrane immune complex deposition. Exon sequencing of the COL4A5 locus identified a thymine to guanine transversion at nucleotide 665, resulting in a phenylalanine to cysteine missense mutation at codon 222. The phenylalanine at position 222 is absolutely conserved among vertebrates. This mutation was confirmed in 4 affected males and 4 female obligate carriers, but was absent in 6 asymptomatic male family members and 198 unrelated individuals. Immunostaining for α5(IV) collagen in renal biopsies from affected males was normal. This mutation, in a non-collagenous interruption associated with severe renal disease, provides evidence for the importance of this structural motif and suggests the range of phenotypes associated with COL4A5 mutations is more diverse than previously realized. Hence, COL4A5 mutation analysis should be considered when glomerulonephritis presents in an X-linked inheritance pattern, even with a presentation distinct from Alport syndrome.
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