Related Experiment Video
Updated: Jul 9, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome
Wenyan Wang1, Fei Zhao1, Guixia Ding1
1Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Objective:
To investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype-phenotype correlation in Chinese children with Gitelman syndrome (GS).
Methods:
Clinical and genetic data of 30 genetically confirmed pediatric GS cases (2015-2025) were retrospectively analyzed. Patients were grouped by sex, serum potassium level, and mutation functional domain.
Results:
Mean onset age was 7.9 ± 3.4years. Common manifestations included muscle weakness (50%) and limb numbness (40%). All patients had hypokalemia; 90% had hypomagnesemia. Female patients exhibited more limb numbness and lower serum calcium. Severe hypokalemia (<2.5 mmol/L) was associated with tetany, dyslipidemia, and increased urinary potassium excretion. Genetic testing identified 55 SLC12A3 variants (6 novel), with high-frequency mutations c.1456G > A (p.D486N) and c.179C > T (p.T60M). No phenotypic difference was found based on functional domain classification.
Conclusion:
Pediatric GS shows significant clinical heterogeneity. Severe hypokalemia is accompanied by early dyslipidemiaindicates. SLC12A3 variants are diverse; functional domain alone cannot predict phenotype. Early screening and long-term follow-up are essential for optimal management.
More Related Videos
07:38Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
Published on: March 30, 2015
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Karyotyping
Pedigree Analysis
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance