A Novel SLC12A3 Splicing Mutation Skipping of Two Exons and Preliminary Screening for Alternative Splice Variants in Human Kidney

Abstract

This is the first report of a splice mutation of SLC12A3 with multiple-exon skipping in Gitelman's syndrome. This study provides further evidence for the severe phenotype of Gitelman's syndrome and its association with underlying mutations. Additionally, we demonstrated that the pre-mRNA of SLC12A3 was complex spliced.