Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing.

ABSTRACT:

Background

The incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling. The aim of this study was to evaluate the pathogenicity of presumed COL4A3/COL4A4 missense and synonymous variants detected by next-generation sequencing to provide evidence for diagnosis and genetic counselling.

Methods

Patients' clinical findings and genetic data were analysed retrospectively. An in vitro minigene assay was conducted to assess the effect of presumed COL4A3/COL4A4 missense and synonymous variants on RNA splicing.

Results

Five unclassified COL4A3/COL4A4 variants, which were detected in five of 343 patients with hereditary kidney diseases, were analysed. All of them w

SUBMITTER: Deng H 

PROVIDER: S-EPMC8977549 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature