ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2016
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 33 citations in OpenAlex.
- Multimodal predictions of end stage chronic kidney disease from asymptomatic individuals for discovery of genomic biomarkers.BMC nephrology · 2026Article
- Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report.Nephron · 2026Article
- Missense Variants inNeurology international · 2024Article
- A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.Biomedicines · 2023Review
- Identification of blood-based key biomarker and immune infiltration in Immunoglobulin A nephropathy by comprehensive bioinformatics analysis and a cohort validation.Journal of translational medicine · 2022Article
- 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
- The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Article
- MicroRNA-214-5p/TGF-β/Smad2 signaling alters adipogenic differentiation of bone marrow stem cells in postmenopausal osteoporosis.Molecular medicine reports · 2018Article
- Neonatal stroke and haematuria: Answers.Pediatric nephrology (Berlin, Germany) · 2018Article
- The highly expressed COL4A1 genes contributes to the proliferation and migration of the invasive ductal carcinomas.Oncotarget · 2017Article
- Reporting renal biopsies from Cyprus: a systematic approach.Journal of nephropathology · 2017Article
- The nature and biology of basement membranes.Matrix biology : journal of the International Society for Matrix Biology · 2017Review
- Alport syndrome: facts and opinions.F1000Research · 2017Review
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9 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundHereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts.
methodsWe used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses.
resultsWe identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1. This mutation predicts truncation of the protein with disruption of the C-terminal part of the NC1 domain. We confirmed its presence in 20 family members, 17 with confirmed haematuria, 5 of whom also had stage 4 or 5 chronic kidney disease. Eleven family members exhibited kidney cysts (55% of those with the mutation), but muscle cramps or cerebral aneurysms were not observed and serum creatine kinase was normal in all individuals tested.
conclusionsMissense mutations of COL4A1 that encode the CB3 [IV] segment of the triple helical domain (exons 24 and 25) are associated with HANAC syndrome (hereditary angiopathy, nephropathy, aneurysms and cramps). Missense mutations of COL4A1 that disrupt the NC1 domain are associated with antenatal cerebral haemorrhage and porencephaly, but not kidney disease. Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the α1 chain of type IV collagen is important in the integrity of glomerular basement membrane in humans.
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