ArticleJournal of the American Society of Nephrology : JASN2015
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting.Case reports in nephrology · 2026Article
- Article
- Article
- CLCluster: A redundancy-reduction contrastive learning-based clustering method of cancer subtype based on multi-omics data.Molecular therapy. Nucleic acids · 2025Article
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report.SAGE open medical case reports · 2025Article
- Untangling the Uncertain Role of Overactivation of the Renin-Angiotensin-Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.International journal of molecular sciences · 2024Review
- Review
- Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.Molecular genetics & genomic medicine · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Genetic and Biological Effects ofFrontiers in genetics · 2022Review
- Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.NPJ genomic medicine · 2021Article
- Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.BMC nephrology · 2021Article
- HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.CEN case reports · 2020Article
- Contribution of Rare Variants of theGenetics · 2020Article
- ExonSkipDB: functional annotation of exon skipping event in human.Nucleic acids research · 2020Article
- Six Exonic Variants in theFrontiers in genetics · 2020Article
- A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in theFrontiers in genetics · 2020Article
- Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.Cells · 2019Review
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A variety of genetic backgrounds cause the loss of function of thiazide-sensitive sodium chloride cotransporter, encoded by SLC12A3, responsible for the phenotypes in Gitelman syndrome. Recently, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been associated with various diseases. Specifically, mutations in exonic splicing enhancer (ESE) sequences can promote exon skipping. Here, we used a bioinformatics program to analyze 88 missense mutations in the SLC12A3 gene and identify candidate mutations that may induce exon skipping. The three candidate mutations that reduced ESE scores the most were further investigated by minigene assay, and two (p.A356V and p.M672I) caused abnormal splicing in vitro. Furthermore, we identified the p.M672I (c.2016G>A) mutation in a patient with Gitelman syndrome and found that this single nucleotide mutation causes exclusion of exon 16 in the SLC12A3 mRNA transcript. Functional analyses revealed that the protein encoded by the aberrant SLC12A3 transcript does not transport sodium. These results suggest that aberrant exon skipping is one previously unrecognized mechanism by which missense mutations in SLC12A3 can lead to Gitelman syndrome.
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