ArticleJournal of the American Society of Nephrology : JASN2011
Spectrum of mutations in Gitelman syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers.
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Who cites it
111 citing papers in PubMed, 232 citations in OpenAlex.
- Urine electrolytes guide treatment of Gitelman syndrome and recurrent syncope-A case report.Physiological reports · 2026Article
- Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.Clinical case reports · 2026Article
- Gitelman Syndrome in the Sixth Decade: An Atypical Presentation with Severe Electrolyte Abnormalities and Genetic Heterogeneity.Annals of African medicine · 2026Article
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review.Clinical case reports · 2026Article
- A novel variant ofAME case reports · 2026Article
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.Kidney international reports · 2025Article
- 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
- Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.Nephrology (Carlton, Vic.) · 2025Article
- 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
- Article
- Gitelman syndrome presenting with lower limb paralysis: a case report.Journal of medical case reports · 2025Article
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Pathophysiological role of Na-Cl cotransporter in kidneys, blood pressure, and metabolism.Human cell · 2024Review
- 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
- Structural bases for NaNature communications · 2024Article
- Genotype-phenotype correlations in children with Gitelman syndrome.Clinical and experimental nephrology · 2024Article
- Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.Molecular diagnosis & therapy · 2024Article
51 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
23 authors at 17 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements may account for unidentified mutations. Here, we directly sequenced genomic DNA from a large cohort of 448 unrelated patients suspected of having GS. We found 172 distinct mutations, of which 100 were unreported previously. In 315 patients (70%), we identified two mutations; in 81 patients (18%), we identified one; and in 52 patients (12%), we did not detect a mutation. In 88 patients, we performed a search for large rearrangements by multiplex ligation-dependent probe amplification (MLPA) and found nine deletions and two duplications in 24 of the 51 heterozygous patients. A second technique confirmed each rearrangement. Based on the breakpoints of seven deletions, nonallelic homologous recombination by Alu sequences and nonhomologous end-joining probably favor these intragenic deletions. In summary, missense mutations account for approximately 59% of the mutations in Gitelman's syndrome, and there is a predisposition to large rearrangements (6% of our cases) caused by the presence of repeated sequences within the SLC12A3 gene.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.