ArticleMolecular genetics & genomic medicine2023
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Article in Molecular genetics & genomic medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 11 citations in OpenAlex.
- Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Functional analysis of BRCA1 and BRCA2 splicing variants using a minigene assay.Human genomics · 2025Article
- Targeted modification of cis-elements in the CUL3 gene to restore exon 9 inclusion for treating Gordon syndrome.Human genomics · 2025Article
- Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay.BMC medical genomics · 2025Article
- Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays.Scientific reports · 2025Article
- Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer.Human genomics · 2025Review
- Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Molecular genetics & genomic medicine · 2024Article
- A novel variant c.7104 + 6T > A ofFrontiers in pediatrics · 2024Article
- Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.Molecular genetics & genomic medicine · 2023Article
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Authors and funding
11 authors at 3 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome (GS) is a type of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre-mRNA splicing, has been related to a variety of diseases. Therefore, we hypothesize that a certain proportion of SLC12A3 variants can result in disease via interfering with the normal splicing process.
methodsWe analyzed 342 previously presumed SLC12A3 missense variants using bioinformatics programs and identified candidate variants that may alter the splicing of pre-mRNA through minigene assays.
resultsOur study revealed that, among ten candidate variants, six variants (c.602G>A, c.602G>T, c.1667C>T, c.1925G>A, c.2548G>C, and c.2549G>C) led to complete or incomplete exon skipping by affecting exonic splicing regulatory elements and/or disturbing canonical splice sites.
conclusionIt is worth mentioning that this is the largest study on pre-mRNA splicing of SLC12A3 exonic variants. In addition, our study emphasizes the importance of detecting splicing function at the mRNA level in GS and indicates that minigene analysis is a valuable tool for splicing functional assays of variants in vitro.
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