Work

Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing

Year: 2024

Type: article

Abstract: Objectives: . We identified a novel synonymous exonic variant leading to abnormal mRNA splicing in a patient with chorea-acanthocytosis. Methods: , mRNA splicing analysis, and Western blot for chorein were performed. Results: (NM_033305.3): c.5157C>T; p.Gly1719 = was identified; this was previously classified as a variant of uncertain significance. SpliceAI predicted a splice donor gain with a score of 0.75 2 base pairs upstream of the reported variant. RNA splicing analysis revealed the creation of a type III splice variant, resulting in a frameshift and a premature termination codon. Western blot showed absent chorein/VPS13A protein. Discussion: proven to affect splicing. Our report further expands the spectrum of variants known to cause ChAc.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200207