Comprehensive analysis of the genes responsible for neuroacanthocytosis in psychiatric disorders

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We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for chorea-acanthocytosis and McLeod syndrome, respectively, in mood disorder and schizophrenia subjects. We identified the existence of several patients with mood disorder or schizophrenia who carry heterozygous, potentially pathogenic mutations in neuroacanthocytosis-related genes. This suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders. The results of analyses of interacting protein using mouse brain and RBC ghost suggest that cytoskeletal proteins may interact with chorein, the VPS13A product.