Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

ABSTRACT:

Introduction

COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset end-stage kidney disease (ESKD); those with splicing variants have middle phenotypes and those with missense variants have the mildest phenotypes. Therefore, genotyping for male patients with XLAS can be used to predict kidney prognosis. Single-base substitutions at the last nucleotide position in each exon are known to affect splicing patterns and could be splicing variants. Nevertheless, in XLAS, these variants are generally considered to be missense variants, without conducting a transcript analysis, which underestimates some patients as having mild phenotypes. This study aimed to investigate whether sing

SUBMITTER: Aoto Y 

PROVIDER: S-EPMC8720670 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature