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Hum Mol Genet2023;32(15):2411-2421.July 20, 2023Journal Article

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Mehdi Zarrei1,2, Christie L Burton3, Worrawat Engchuan1,2, Edward J Higginbotham1,2, John Wei1, Sabah Shaikh3, Nicole M Roslin1,2,3, Jeffrey R MacDonald1, Giovanna Pellecchia1, Thomas Nalpathamkalam1, Sylvia Lamoureux1, Roozbeh Manshaei1,4, Jennifer Howe1, Brett Trost1,2, Bhooma Thiruvahindrapuram1, Christian R Marshall1,5,6, Ryan K C Yuen1,2, Richard F Wintle1, Lisa J Strug1,2,7, Dimitri J Stavropoulos5, Jacob A S Vorstman1,2,8,9, Paul Arnold2,10,11, Daniele Merico1,12, Marc Woodbury-Smith1,13, Jennifer Crosbie3,8, Russell J Schachar3,8,14, Stephen W Scherer1,2,15
1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
2Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.
3Neurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
4Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
5Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
6Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada.
7Departments of Statistical Sciences, Computer Science and Biostatistics, University of Toronto, Toronto, ON M5G 1Z5, Canada.
8Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada.
9Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
10Mathison Centre for Mental Health Research and Education, University of Calgary, Calgary, AB T2N 1N4, Canada.
11Departments of Psychiatry & Medical Genetics, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
12Deep Genomics Inc., Toronto, ON M5G 1M1, Canada.
13Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.
14Institute of Medical Science, University of Toronto, Toronto, ON M5S 1A8, Canada.
15Department of Molecular Genetics, McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A8, Canada.
PubMed PMC DOI PDF

Abstract

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health and cognition in a community sample of 7100 unrelated children and youth of European or East Asian ancestry (Spit for Science). Clinically significant or susceptibility CNVs were present in 3.9% of participants and were associated with elevated scores on a cont…

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