Copy-number variations in DISC 1 and DISC 1-interacting partners in major mental illness

Robust statistical, genetic and functional evidence supports a role for DISC1 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 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. Here, we report the finding of rare CNVs in DISC1 , NDE1 (together with adjacent genes within Received: February 16, 2015 Accepted: July 13, 2015 Published online: October 7, 2015 Dr. Mandy Johnstone, BSc (Hons), MBChB, PhD, MRCPsych Division of Psychiatry, University of Edinburgh Royal Edinburgh Hospital, Morningside Terrace Edinburgh EH10 5HF (UK) E-Mail mandy.johnstone @ ed.ac.uk © 2015 The Author(s) Published by S. Karger AG, Basel 2296–9209/15/0013–0175$0/0 www.karger.com/mnp This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY) (http://www.karger.com/Services/ OpenAccessLicense). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher. D ow nl oa de d by : U ni ve rs ity o f E di nb ur gh 14 9. 12 6. 76 .6 5 11 /1 8/ 20 15 2 :3 0: 53 P M

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