ArticleJournal of human genetics2018
Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Potential involvement of abnormal splicing in severe WT1-related disorders.Clinical and experimental nephrology · 2025Article
- The Contribution ofFrontiers in medicine · 2022Review
- An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases.Computational and structural biotechnology journal · 2022Article
- Article
- Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of theInternational journal of molecular sciences · 2020Article
- Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.Clinical and experimental nephrology · 2020Article
- Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.Scientific reports · 2019Article
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Authors and funding
14 authors.
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Abstract
Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic syndrome (aHUS). Some reports have indicated that patients with digenic variants in these genes might present severer phenotypes. Upon detecting novel intronic variants, transcriptional analysis is necessary to prove pathogenicity; however, when intronic variants are located in intron 1 and, as a result, no transcript is produced, no appropriate method had been established to reveal the pathogenicity. Recently, the minigene assay was used to assess the pathogenicity of intronic variants. Here, we report an infantile case of aHUS caused by digenic mutations in two different complement-related genes, C3 and MCP. Targeted sequencing detected a known variant in C3 and a novel variant in the intron 1 splicing donor site of MCP. To assess the pathogenicity of this intronic variant, we conducted functional splicing assay using a minigene construct and quantitative PCR analysis of the MCP transcript, revealing the pathogenicity of the intronic variant. In conclusion, the minigene assay revealed the pathogenicity of the intron 1 splicing donor site variant for the first time. This case showed a severe phenotype of infantile-onset aHUS associated with digenic variants in two complement-related genes.
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