Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature review

Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disease caused by mutations in the VPS13A gene (vacuolar proteinsorting protein 13). Here we report a case of ChAc caused by two new compound heterozygous mutation in the VPS13A. A 36-year-old female presented with orolingual dystonia, dysarthria and mental symptom. A diagnosis of ChAc was established based on typical clinical symptoms, neuroimaging features, acanthocytosis in the peripheral blood smears. Then, whole-exome sequencing of the proband family members determined two novel mutations in VPS13A, including c.4242 + 1G > T (exon36, NM_033305) and c.9270_9274dupCAGAC (exon36, NM_033305). Two novel compound heterozygous mutations in VPS13A cause ChAc, which deepens current understanding about the pathogenesis of ChAC.