Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees

Objective To investigate the clinical and genetic characteristics of 5 pedigrees of Gitelman syndrome (GS), and summarize its advances in genetics, diagnosis and management. Methods Five families with GS were identified and total genome DNA were extracted from the peripheral blood of all the family members. The exons and their flanking introns of SLC12A3 gene were amplified by PCR and screened for mutation using Autoassembler 2.0 software. Results Six heterozygous SLC12A3 gene mutations were found in the five pedigrees, including two complex combination of deletion and insertion mutation (c.486-490delTACGGinsA and c. 965-1_969delgCGGACinsACCGAAA and c. 976-977delGT). These mutations were predicted to change the normal protein structure. Conclusion These 6 SLC12A3 mutations are the major cause of the five pedigrees of GS. Key words: Gitelman syndrome; Mutation; SLC12A3 gene