Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness

Mandy Johnstone, Alan Maclean, Lien Heyrman, An-Sofie Lenaerts, Annelie Nordin, Lars-Göran Nilsson, Peter De Rijk, Dirk Goosens, Rolf Adolfsson, David M. St. Clair, Jeremy Hall, Stephen M. Lawrie, Andrew M. McIntosh, Jurgen Del-Favero, Douglas H.R. Blackwood, Benjamin S. Pickard

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Robust statistical, genetic and functional evidence supports a role for DISC1 in the etiology 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 DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification (MAQ). We report finding rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the etiology of these devastating diseases.
Original languageEnglish
Pages (from-to)175-190
Number of pages16
JournalMolecular Neuropsychiatry
Issue number3
Early online date7 Oct 2015
Publication statusPublished - 31 Oct 2015


  • copy number variants
  • DISC1
  • NDE1
  • NDEL1
  • schizophrenia
  • affective disorder
  • intellectual disability


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