ArticleMolecular genetics & genomic medicine2019
Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 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
- Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review.Frontiers in pediatrics · 2026Article
- Clinical differences between female monozygotic twins with X-linked Alport syndrome with somatic mosaicism.Pediatric nephrology (Berlin, Germany) · 2025Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Guidelines for Genetic Testing and Management of Alport Syndrome.Clinical journal of the American Society of Nephrology : CJASN · 2022Article
- Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review.Journal of ophthalmology · 2022Review
- Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2021Article
- A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.Matrix biology plus · 2021Article
- A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.CEN case reports · 2020Article
- COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2020Observational
- Heterozygous Urinary Abnormality-Causing Variants ofKidney360 · 2020Article
- IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report.The Journal of international medical research · 2020Article
- The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome.Frontiers in pediatrics · 2020Article
- Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.Molecular genetics & genomic medicine · 2019Article
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7 authors at 1 institution in 1 country.
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Abstract
backgroundAlport syndrome is an inherited renal disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Coexisting mutations in either two of the three genes in Alport patients have been reported recently. However, the effect of heterozygous mutations in COL4A3 or COL4A4 genes in X-linked Alport syndrome (XLAS) patients is unclear.
methodsUsing targeted next-generation sequencing, six unrelated Chinese children were identified to have a combination of a pathogenic variant in COL4A5 and a heterozygous mutation in COL4A3 or COL4A4. They were three males and three females. Another three XLAS males each with only one pathogenic variant in COL4A5 were included. The clinical data were analyzed and compared between the males in two groups (group 1, males with a pathogenic variant in COL4A5 and a heterozygous pathogenic variant in COL4A3 or COL4A4; group 2, males with only one pathogenic variant in COL4A5).
resultsPatients with XLAS who also had heterozygous pathogenic COL4A3 or COL4A4 variants accounted for 1% of Alport syndrome. In this study, three children showed coexisting pathogenic variants in COL4A5 and COL4A3. Two children showed pathogenic variants in COL4A5 and COL4A4. One child had pathogenic variants in the three COL4A3-5 genes, in which the pathogenic variant in COL4A5 was de novo and the pathogenic variants in COL4A4 and COL4A3 were inherited independently (in trans). The site and type of mutations in COL4A5 were similar between the two groups. It was revealed that males in group 1 presented more severe proteinuria than males in group 2 (p < 0.05).
conclusionThe present study provides further evidence for complicated genotype in Alport syndrome. For the first time, we reported a case with three pathogenic variants in COL4A5, COL4A3, and COL4A4 genes. Moreover, we found that heterozygous pathogenic COL4A3 or COL4A4 variants are likely to make XLAS disease more serious.
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