Abstract
Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14 family members) were enrolled. The symptoms, laboratory results, management, and genotypes were analyzed. Genomic DNA was screened for gene variations using Sanger sequencing. DNA sequences were compared with reference sequences. The effects of the mutations were predicted using prediction tools (Mutation Taster, PolyPhen-2, SIFT, and PROVEAN). Genetic analysis revealed six genetic variants of SLC12A3, including three novel heterozygous mutations (c.2T > C, c.1609C > T, c.3055G > A) and three previously characterized mutations (c.1456G > A, c.2542G > A, c.1077C > G). These mutations were predicted to exert a damaging effect based on predictive in silico tools. GS patients had low blood pressure and low levels of serum K+, serum Mg2+, and 24-h urinary Ca2+ but high levels of 24-h urinary K+. These clinical manifestations and genotypes were consistent with the diagnostic criteria of GS. The study described the phenotypes and genotypes of 4 pedigrees involving GS patients, demonstrating the importance of SLC12A3 gene screening for GS.
Acknowledgement
The authors thank the patients and their family members who agreed to participate in this study.
Disclosure statement
The authors report no conflicts of interest related to this work.