ArticlePediatric nephrology (Berlin, Germany)2016
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Article in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- KDIGO Clinical Practice Guideline on the Evaluation and Care of Living Kidney Donors.Transplantation · 2017Guideline
- Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.European journal of human genetics : EJHG · 2026Article
- Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Nature communications · 2026Article
- A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.BMC nephrology · 2025Article
- Low level of expression of known deafness genes Kcne1, Kcnj10 or Col4a3 is sufficient to maintain hearing in mice.Hearing research · 2025Article
- Lithuanian Study onInternational journal of molecular sciences · 2025Article
- Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.Scientific reports · 2025Article
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria.Renal failure · 2024Article
- Article
- Genetic diagnosis of Alport syndrome in 16 Chinese families.Molecular genetics & genomic medicine · 2024Article
- Case Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient.Frontiers in pediatrics · 2024Article
- Article
- Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Journal of nephrology · 2023Article
- Kidney Disease Associated With Mono-allelicKidney medicine · 2023Article
- Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.Clinical and experimental nephrology · 2023Article
- New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.Journal of clinical medicine · 2022Article
- Identification of 27 Novel Variants in GenesFrontiers in medicine · 2022Article
- The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.Frontiers in medicine · 2022Article
- Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.Frontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and proteinuria. It can be associated with extrarenal manifestations. In contrast, thin basement membrane nephropathy (TBMN) is characterized by microscopic hematuria, is largely asymptomatic, and is rarely associated with proteinuria and end-stage renal disease. Mutations have been identified in the COL4A5 gene in ATS and in the COL4A3 and COL4A4 genes in ATS and TBMN. To date, more than 1000 different mutations in COL4A5, COL4A3, and COL4A4 are known.
methodsIn this study mutational analysis by exon sequencing and multiplex ligation-dependent probe amplification was performed in a large European cohort of families with ATS and TBMN.
resultsMolecular diagnostic testing of 216 individuals led to the detection of 47 novel mutations, thereby expanding the spectrum of known mutations causing ATS and TBMN by up to 10 and 6%, respectively, depending on the database. Remarkably, a high number of ATS patients with only single mutations in COL4A3 and COL4A4 were identified. Additionally, three ATS patients presented with synonymous sequence variants that possible affect correct mRNA splicing, as suggested by in silico analysis.
conclusionsThe results of this study clearly broaden the genotypic spectrum of known mutations for ATS and TBMN, which will in turn now facilitate future studies into genotype-phenotype correlations. Further studies should also examine the significance of single heterozygous mutations in COL4A3 and COL4A4 and of synonymous sequence variants associated with ATS.
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