ArticleMedical science monitor : international medical journal of experimental and clinical research2019
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Article in Medical science monitor : international medical journal of experimental and clinical research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 29 citations in OpenAlex.
- Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review.Current issues in molecular biology · 2026Review
- Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome.Frontiers in pediatrics · 2026Article
- A novel variant ofAME case reports · 2026Article
- Novel clinical and genetic insights into Gitelman syndrome from 95 Chinese patients.Human genomics · 2025Article
- Transport and thiazide-inhibition mechanisms of the Na-Cl cotransporter: a structural perspective.Current opinion in nephrology and hypertension · 2025Review
- The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.BMC nephrology · 2025Review
- 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
- A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.Acta epileptologica · 2023Article
- Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.BMC nephrology · 2023Review
- Novel Intronic Mutations of theInternational journal of general medicine · 2023Article
- Molecular complexity analysis of the diagnosis of Gitelman syndrome in China.Open life sciences · 2023Article
- The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.Frontiers in endocrinology · 2023Article
- Cryo-EM structure of the human sodium-chloride cotransporter NCC.Science advances · 2022Article
- Novel compound heterozygous mutation ofWorld journal of clinical cases · 2022Article
- Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.Endocrine connections · 2022Article
- Genetic and Biological Effects ofFrontiers in genetics · 2022Review
- Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.Kidney international reports · 2021Article
- Cation-coupled chloride cotransporters: chemical insights and disease implications.Trends in chemistry · 2021Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. MATERIAL AND METHODS We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene. We divided all the patients into 3 groups according to diagnostic consensus. Complete compliance was defined to mean containing 2 allelic mutations, partial compliance to mean one allelic mutation, and clinical compliance to mean no mutations. RESULTS Totally, 137 patients were enrolled in this study and 90 mutations were counted. Missense mutations accounted for over 72% in Chinese GS patients and the most common one was Thr60Met. According to the consensus, there were 102 patients (74.5%) in the complete compliance group, 31 patients (22.6%) in the partial compliance group, and only 4 patients (2.9%) in the clinical compliance group. CONCLUSIONS The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations. Most of the patients were in the complete compliance group (i.e., 2 allelic mutations); the other cases might be explained by gene rearrangement.
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