Supplementary Material for: Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

Robust statistical, genetic and functional evidence supports a role for <i>DISC1</i> in the aetiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy number variants (CNVs) are suspected to play an important causal role in these disorders. In this study, CNV analysis of <i>DISC1</i> and its binding partners <i>PAFAH1B1</i>, <i>NDE1</i>, <i>NDEL1</i>, <i>FEZ1</i>, <i>MAP1A</i>, <i>CIT</i> and <i>PDE4B</i> in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification. Here, we report the finding of rare CNVs in <i>DISC1</i>, <i>NDE1</i> (together with adjacent genes within the 16p13.11 duplication), <i>NDEL1</i> (including the overlapping <i>MYH10 </i>gene) and <i>CIT</i>. Our findings provide further evidence for involvement of <i>DISC1</i> and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the aetiology of these devastating diseases.