ArticleJournal of the American Society of Nephrology : JASN2013
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.
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104 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.
- Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Guideline
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report.Molecular genetics and metabolism reports · 2026Article
- Bibliometric analysis of Alport syndrome: genetic foundations, clinical implications, and the transition to precision medicine.International urology and nephrology · 2026Article
- Genetic kidney disease in adults-the pathologists' perspective.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Review
- A Novel HomozygousKidney international reports · 2026Article
- Hearing loss and truncating variants in Alport syndrome.Kidney research and clinical practice · 2026Article
- Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.Molecular medicine (Cambridge, Mass.) · 2026Article
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- An integrative framework for drug target discovery bridging clinical trial and genetic data insights.Journal of translational medicine · 2026Article
- Genetic screening in kidney transplant candidates.Clinical kidney journal · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.Kidney international reports · 2025Article
- The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree.Journal of nephrology · 2025Article
- Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China.Scientific reports · 2025Article
- High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia.Biomedicines · 2025Article
- Lithuanian Study onInternational journal of molecular sciences · 2025Article
- Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.Journal of biomedical science · 2025Article
- Alport syndrome and eye.Kidney research and clinical practice · 2025Article
- A comprehensive review of Alport syndrome: definition, pathophysiology, clinical manifestations, and diagnostic considerations.Kidney research and clinical practice · 2025Article
44 more citing papers are in PubMed but not listed here.
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5 authors at 3 institutions in 2 countries.
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Abstract
Alport syndrome is an inherited disease characterized by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Autosomal recessive Alport syndrome is suspected in consanguineous families and when female patients develop renal failure. Fifteen percent of patients with Alport syndrome have autosomal recessive inheritance caused by two pathogenic mutations in either COL4A3 or COL4A4. Here, we describe the mutations and clinical features in 40 individuals including 9 children and 21 female individuals (53%) with autosomal recessive inheritance indicated by the detection of two mutations. The median age was 31 years (range, 6-54 years). The median age at end stage renal failure was 22.5 years (range, 10-38 years), but renal function was normal in nine adults (29%). Hearing loss and ocular abnormalities were common (23 of 35 patients [66%] and 10 of 18 patients [56%], respectively). Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4. Of the 68 variants identified, 39 were novel, 12 were homozygous changes, and 9 were present in multiple individuals, including c.2906C>G (p.(Ser969*)) in COL4A4, which was found in 23% of the patients. Thirty-six variants (53%) resulted directly or indirectly in a stop codon, and all 17 individuals with early onset renal failure had at least one such mutation, whereas these mutations were less common in patients with normal renal function or late-onset renal failure. In conclusion, patient phenotypes may vary depending on the underlying mutations, and genetic testing should be considered for the routine diagnosis of autosomal recessive Alport syndrome.
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