Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.

ABSTRACT:

Background

Alport syndrome is an inherited disorder characterized by progressive renal disease, variable sensorineural hearing loss, and ocular abnormalities. Although many pathogenic variants in COL4A3 and COL4A4 have been identified in patients with autosomal Alport syndrome, synonymous mutations in these genes have rarely been identified.

Methods

We conducted in silico splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength and disruption of the sites. Furthermore, we performed in vitro splicing assays using minigene constructs and mRNA analysis of patient samples to determine the pathogenicity of four synonymous variants detected in four patients with suspected autosomal dominant Alport syndrome (C

SUBMITTER: Rossanti R 

PROVIDER: S-EPMC9034806 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature