ArticleMolecular genetics & genomic medicine2019
Genotype-phenotype correlation and prognostic impact in Chinese patients with 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 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Global trends and emerging research hotspots in Alport syndrome: a comprehensive bibliometric analysis (1961-2024).Translational pediatrics · 2026Article
- Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.Scientific reports · 2025Article
- Spectrum of Alport syndrome in an Indian cohort.Pediatric nephrology (Berlin, Germany) · 2025Article
- The heterozygous mutationFrontiers in pediatrics · 2025Article
- Novel method for the genomic analysis ofFrontiers in cell and developmental biology · 2022Article
- Novel heterozygous mutation inFrontiers in genetics · 2022Article
- Identification ofFrontiers in genetics · 2022Article
- HMGB-1 and TGFβ-1 highlight immuno-inflammatory and fibrotic processes before proteinuria onset in pediatric patients with Alport syndrome.Journal of nephrology · 2021Article
- Formins in Human Disease.Cells · 2021Review
- Novel Mutations ofBioMed research international · 2021Review
- The formin INF2 in disease: progress from 10 years of research.Cellular and molecular life sciences : CMLS · 2020Review
- An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.BMC nephrology · 2020Article
- Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations in the genes encoding the collagen type IV family of proteins.
methodsThis study analyzed the association between the clinical data of seven AS families and genes and the disease progression of different mutation types, including COL4A3 (OMIM 120070)，COL4A4 (OMIM 120131), and COL4A5 (OMIM303630).
resultsA total of six new pathogenic mutation sites, one complex heterozygous mutation at COL4A3, and a combined mutation of COL4A5 and INF2 (OMIM 610982) were identified in this study. It was revealed that the clinical manifestations of X-linked AS caused by mutations in the COL4A5 gene were more severe in males than in females. In addition, the difference in patient phenotype can be attributed to the location of gene mutations affecting the protein domain or functional domain. Our data suggested that the gene deletion and nonsense mutations had a high risk for progression to ESRD.
conclusionOur results revealed the spectrum of type IV collagen genes, which contribute to the enrichment of database resources and has important implications in the diagnosis, prognosis, and guiding treatment of AS.
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