ArticleMolecular genetics & genomic medicine2020
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 18 citations in OpenAlex.
- Transcriptome Sequencing Reveals Hidden Diagnostic Clues in the Alport Spectrum.Kidney international reports · 2026Article
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome.Kidney international reports · 2026Article
- Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome.Frontiers in medicine · 2026Article
- Identification of novel COL4A5 variants and prenatal diagnosis in three large families.Scientific reports · 2025Article
- Article
- Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report.Molecular genetics & genomic medicine · 2024Article
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2024Article
- All reported non-canonical splice site variants in GLA cause aberrant splicing.Clinical and experimental nephrology · 2023Article
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.BMC medical genomics · 2023Article
- Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Journal of nephrology · 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
- Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A ofFrontiers in genetics · 2023Article
- The Contribution ofFrontiers in medicine · 2022Review
- PresumedFrontiers in medicine · 2022Article
- Case Report: A Synonymous Mutation inFrontiers in genetics · 2021Article
- Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome.Kidney research and clinical practice · 2020Review
- Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens.
methodsIn this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. The variants were c.876 A>T (p.Gly292=), c.2358 A>G (p.Pro786=), and c.3906 A>G (p.Gln1302=).
resultsThe results from our hybrid minigene assay were sufficient to predict splicing abnormalities; c.876 A>T cause 17-bp del and 35-bp del, c.2358 A>G cause exon 29 skipping, c.3906 A>G cause exon 42 skipping, which are very likely to cause pathogenicity. Further, patients carrying c.2358 A>G exhibited a mild phenotype that may have been associated with the presence of both normal and abnormally spliced transcripts.
conclusionThe minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.
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