Article

Functional Validation of Spliceogenic COL4A3 and COL4A4 Variants by Minigene Assays Refines Molecular Diagnosis of Alport Syndrome

2026-01-30

Abstract excerpt

<title>Abstract</title> <p> Background Alport syndrome (AS) is a hereditary progressive kidney disease caused by pathogenic variants in the <italic>COL4A3</italic> , <italic>COL4A4</italic> , and <italic>COL4A5</italic> genes. Aberrant pre-mRNA splicing represents a major disease mechanism in AS, and both synonymous and intronic variants can disrupt splice-site recognition or regulatory elements, leading...

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Literature Corpus work: cf7d5457-2e3f-5aaa-9c3d-932d32e62263
DOI: 10.21203/rs.3.rs-8702329/v1

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