Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.

ABSTRACT:

Background

X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens.

Methods

In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported p

SUBMITTER: Horinouchi T 

PROVIDER: S-EPMC7434753 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature