title: Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness.
abstract: Robust statistical, genetic and functional evidence supports a role forDISC1in 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 ofDISC1and its binding partnersPAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CITandPDE4Bin Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification. Here, we report the finding of rare CNVs inDISC1, NDE1(together with adjacent genes within the 16p13.11 duplication),NDEL1(including the overlappingMYH10gene) andCIT. Our findings provide further evidence for involvement ofDISC1and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the aetiology of these devastating diseases.
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK; Medical Genetics, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Mandy
authors.initials: M
authors.lastname: Johnstone
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK; Medical Genetics, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Alan
authors.initials: A
authors.lastname: Maclean
authors.affiliation: Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
authors.forename: Lien
authors.initials: L
authors.lastname: Heyrman
authors.affiliation: Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
authors.forename: An-Sofie
authors.initials: AS
authors.lastname: Lenaerts
authors.affiliation: Department of Clinical Sciences, Psychiatry, Umeå University, Umeå, Sweden.
authors.forename: Annelie
authors.initials: A
authors.lastname: Nordin
authors.affiliation: Department of Psychology, Stockholm University, Stockholm, Sweden.
authors.forename: Lars-Göran
authors.initials: LG
authors.lastname: Nilsson
authors.affiliation: Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
authors.forename: Peter
authors.initials: P
authors.lastname: De Rijk
authors.affiliation: Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
authors.forename: Dirk
authors.initials: D
authors.lastname: Goossens
authors.affiliation: Department of Clinical Sciences, Psychiatry, Umeå University, Umeå, Sweden.
authors.forename: Rolf
authors.initials: R
authors.lastname: Adolfsson
authors.affiliation: Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK.
authors.forename: David M
authors.initials: DM
authors.lastname: St Clair
authors.affiliation: Neurosciences & Mental Health Research Institute, Cardiff University School of Medicine, Cardiff, UK.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Hall
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK.
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Lawrie
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: McIntosh
authors.affiliation: Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
authors.forename: Jurgen
authors.initials: J
authors.lastname: Del-Favero
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK; Medical Genetics, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: Douglas H R
authors.initials: DH
authors.lastname: Blackwood
authors.affiliation: Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, UK.
authors.forename: Benjamin S
authors.initials: BS
authors.lastname: Pickard
keywords: Affective disorder; Copy number variants; DISC1; Intellectual disability; NDE1; NDEL1; Schizophrenia