The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.

ABSTRACT: X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Recent advances in genetic analysis and further understanding of genotype-phenotype correlations in affected male patients raises the importance of detecting splicing variants in COL4A5. Aberrant splicing of COL4A5 is caused not only by canonical splice site variants but also non-canonical splice site variants such as deep intronic changes or even substitutions in exons. Patients with splicing variants account for ~15% of all cases in XLAS. In addition, it has been shown that there is a significant difference in kidney survival depending on the aberrant splicing patterns of transcripts- in particular in-f

SUBMITTER: Yamamura T 

PROVIDER: S-EPMC8861460 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature