Autism spectrum disorder (ASD) and schizophrenia are clinically distinguished as different disorders by diagnostic criteria based on clinical symptoms. However, recent epidemiological studies suggest that they have a common etiology and pathophysiology. To investigate this, we performed genome-wide genetic analysis focusing on rare copy number variants (CNVs) in ASD and schizophrenia. As a result, approximately 8% of patients were found to have pathogenic CNVs, many of which were common to both disorders. We also found that patients with pathogenic CNV have a high rate of intellectual disability. Biological pathways identified from bioinformatics analyses of CNV data also have commonality between the two disorders, including synapses, gene expression regulation, oxidative stress response, and genome integrity. The significance of these pathways will be revealed by further analysis using CNV-based model organisms such as patient-derived iPS cells and genetically-engineered mice. The identification of neural circuits related to the symptoms of mental illness is expected to aid in the development of therapeutic methods.
 ＜Author's abstract＞