Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

ABSTRACT:

Background

Familial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be detrimental by affecting the pre-mRNA splicing process. Therefore, we hypothesize that a certain proportion of SLC5A2 exonic variants can result in disease via interfering with the normal splicing process of the pre-mRNA.

Methods

We used bioinformatics programs to analyze 77 previously described presumed SLC5A2 missense variants and identified candidate variants that may alter the splicing of pre-mRNA through minigene assays.

Results

Our study indicated six of 7 candidate variants induced spli

SUBMITTER: Wang S 

PROVIDER: S-EPMC7674938 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature