Background: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement\ndisorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and\nneuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance.\nCase presentation: Here we report two patients belonging to a consanguineous Moroccan family who present\nwith movement disorder pathology. They were suspected to have choreoacanthocytosis according to biological,\nclinical and radiological finding. Thus, whole-exome sequencing was performed for precise diagnosis and identified\na homozygous novel nonsense mutation c.337C > T (p.Gln113*) in exon 5 of VPS13A in the two affected siblings.\nConclusion: Here, we report a novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome\nsequencing, which caused ChAc in a Moroccan family. This is the first description of ChAc in Morocco with genetic\nconfirmation, that expands the mutation diversity of VPS13A and provide clinical, neuroimaging and deep brain\nstimulation findings.
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