ObjectiveTo screen pathogenic gene mutations of Gitelman syndrome (GS).MethodsPatients with GS diagnosed and treated in the Department of Endocrinology and Metabolism, West China Hospital of Sichuan University from January 2015 to December 2020 and their family members were included. The pathogenic genes were screened by second-generation sequencing combined with first-generation validation.ResultsA total of 15 GS patients were included. Gene analysis of patients indicated SLC12A3 gene mutation, including 9 cases of compound heterozygous mutation and 6 cases of heterozygous mutation. A total of 12 reported pathogenic sites and 8 new pathogenic mutations were found. Among the newly discovered pathogenic mutations, four were missense mutations (c.539C>A, p.T180K; c.1077C>G, p.N359K; c.1967C>T, p.P656L; and c.2963T>C, p.I988T), one was frame shift mutation caused by single base deletion (c.2543delA, p.D848fs), one was nonsense mutation (c.2129C>A, p.S710X), one was large fragment deletion (exon 7-8 partial coding sequence deletion), and one was coding sequence deletion and abnormal base sequence insertion (IVS7-1 to c.976 deletion GCGGACATTTTTG insertion into ACCGAAAATTTT).ConclusionIn this study, 8 new gene mutations leading to GS were found, and the exact pathogenesis of GS remains to be further confirmed.