Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.

ABSTRACT:

Objectives

Chorea-acanthocytosis is an autosomal recessively inherited condition caused by loss-of-function pathogenic variants in VPS13A. We identified a novel synonymous exonic variant leading to abnormal mRNA splicing in a patient with chorea-acanthocytosis.

Methods

A patient with focal epilepsy developed generalized chorea with orolingual dystonia, cognitive decline, and peripheral neuropathy, consistent with chorea-acanthocytosis. Her parents were first cousins, but there was otherwise no family history. Targeted gene sequencing for variants in VPS13A, mRNA splicing analysis, and Western blot for chorein were performed.

Results

A homozygous synonymous variant in exon 41 of VPS13A (NM_033305.3): c.5157C>T; p.Gly1719 = was identified; this was

SUBMITTER: Hoe RHM 

PROVIDER: S-EPMC11588019 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature