ArticleHuman genetics2009
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 40 citations in OpenAlex.
- Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.Clinical and experimental nephrology · 2026Article
- Potential involvement of abnormal splicing in severe WT1-related disorders.Clinical and experimental nephrology · 2025Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
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- Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.Clinical and experimental nephrology · 2024Article
- Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.Clinical and experimental nephrology · 2022Article
- The Contribution ofFrontiers in medicine · 2022Review
- Last Nucleotide Substitutions ofKidney international reports · 2022Article
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome.Kidney international reports · 2021Article
- Article
- Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of theInternational journal of molecular sciences · 2020Article
- Onset mechanism of a female patient with Dent disease 2.Clinical and experimental nephrology · 2020Article
- Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.Molecular genetics & genomic medicine · 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
- Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.Journal of human genetics · 2019Article
- Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2018Article
- Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.Journal of human genetics · 2018Article
- An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.BMC nephrology · 2017Article
- Female X-linked Alport syndrome with somatic mosaicism.Clinical and experimental nephrology · 2017Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type I Bartter syndrome (BS), an inherited salt-losing tubulopathy, is caused by mutations of the SLC12A1 gene. While several intronic nucleotide changes in this gene have been detected, transcriptional analysis had not been conducted because mRNA analysis is possible only when renal biopsy specimens can be obtained or occasionally when mRNA is expressed in the leukocytes. This report concerns a type I BS patient due to compound heterozygosity for the SLC12A1 gene. Genomic DNA sequencing disclosed the presence of two novel heterozygous mutations of c.724 + 4A > G in intron 5 and c.2095delG in intron 16, but it remains to be determined whether the former would be likely to influence the transcription. In this report, we conducted both in vivo assay of RT-PCR analysis using RNA extracted from the proband's urinary sediments and in vitro functional splicing study by minigene construction, and obtained evidence that this intronic mutation leads to complete exon 5 skipping. To the best of our knowledge, this is the first study to use non-invasive methods for both an in vivo assay and an in vitro functional splicing assay of inherited kidney disease. These analytical assays could be adapted for all inherited kidney diseases.
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