Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

ABSTRACT:

Background

X-linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre-mRNA by altering various splicing regulatory signals. The male patients with XLAS have a strong genotype-phenotype correlation. Confirming the effect of variants on splicing can help to predict kidney prognosis. This study aimed to investigate whether single nucleotide substitutions, located within three bases at the 5' end of the exons or internal position of the exons in COL4A5 gene, cause aberrant splicing process.

Methods

We analyzed 401 SNVs previously presumed missense and nonsense variants in COL4A5 gene by bioinformatics

SUBMITTER: Zhang R 

PROVIDER: S-EPMC10891438 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature