Copy number variation analysis of chorea-acanthocytosis gene in psychiatric disorders

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We performed a comprehensive mutation screen of chorea-acanthocytosis(ChAc) gene and identified pathogenic copy number variation and a potentially functional variant in mood disorder subjects. The results of protein analysis of erythrocyte and cultured cell line highly expressing chorein suggest that chorein may interact with cytoskeletal proteins and disruption of these interaction may lead to ChAc or mood disorders.