Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.

ABSTRACT:

Background

Gitelman syndrome (GS) is a type of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre-mRNA splicing, has been related to a variety of diseases. Therefore, we hypothesize that a certain proportion of SLC12A3 variants can result in disease via interfering with the normal splicing process.

Methods

We analyzed 342 previously presumed SLC12A3 missense variants using bioinformatics programs and identified candidate variants that may alter the splicing of pre-mRNA through minigene assays.

Results

Our study revealed that, among ten candidate variants, six variants (c.602G>A, c.602G>T, c.1667C>T, c.1925G>A, c.25

SUBMITTER: Shi X 

PROVIDER: S-EPMC10094094 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature