BRIEF REPORTExploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosaYilmaz, Zeynepa,*; Szatkiewicz, Jin P.b,*; Crowley, James J.a,b,q; Ancalade, NaEshiab; Brandys, Marek K.d,g; van Elburg, Annemariee,g; de Kovel, Carolien G.F.f; Adan, Roger A.H.d,g; Hinney, Ankeh; Hebebrand, Johannesh; Gratacos, Monicai,j,k; Fernandez-Aranda, Fernandol,m; Escaramis, Georgiai,j,k; Gonzalez, Juan R.j,k,n; Estivill, Xavieri,j,k; Zeggini, Eleftheriao; Sullivan, Patrick F.a,b,p; Bulik, Cynthia M.a,c,p Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3 Author Information Departments of aPsychiatry bGenetics cNutrition, University of North Carolina, Chapel Hill, North Carolina, USA Departments of dNeuroscience and Pharmacology eChild and Adolescent Psychiatry fMedical Genetics, University Medical Center Utrecht, Utrecht gAltrecht Eating Disorders Rintveld, Zeist, The Netherlands hDepartment of Child and Adolescent Psychiatry, Psychotherapy, and Psychosomatics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany iGenetic Causes of Disease Group, Centre for Genomic Regulation jPompeu Fabra University kCenter for Biomedical Research in Network in Epidemiology and Public Health (CIBERESP) lDepartment of Psychiatry and CIBEROBN, University Hospital of Bellvitge-IDIBELL mDepartment of Clinical Sciences, School of Medicine, University of Barcelona nISGLOBAL, Centre for Research in Environmental Epidemiology, Barcelona, Spain oWellcome Trust Sanger Institute, Hinxton, UK Departments of pMedical Epidemiology and Biostatistics qClinical Neuroscience, Karolinska Institutet, Stockholm, Sweden * Zeynep Yilmaz and Jin P. Szatkiewicz contributed equally to the writing of this article. Correspondence to Zeynep Yilmaz, PhD, Department of Psychiatry, University of North Carolina at Chapel Hill, CB #7160, 101 Manning Drive, Chapel Hill, NC 27599-7160, USA Tel: +1 984 974 3841; fax: +1 984 974 3780; e-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0/ Received January 10, 2016 Received in revised form February 22, 2017 Accepted February 28, 2017 Psychiatric Genetics: August 2017 - Volume 27 - Issue 4 - p 152-158 doi: 10.1097/YPG.0000000000000172 Buy SDC Metrics Abstract Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Following stringent quality control procedures, we investigated whether pathogenic CNVs in regions previously implicated in psychiatric and neurodevelopmental disorders were present in AN cases. We observed two instances of the well-established pathogenic CNVs in AN cases. In addition, one case had a deletion in the 13q12 region, overlapping with a deletion reported previously in two AN cases. As a secondary aim, we also examined our sample for CNVs over 1 Mbp in size. Out of the 40 instances of such large CNVs that were not implicated previously for AN or neuropsychiatric phenotypes, two of them contained genes with previous neuropsychiatric associations, and only five of them had no associated reports in public CNV databases. Although ours is the largest study of its kind in AN, larger datasets are needed to comprehensively assess the role of CNVs in the etiology of AN. Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.