A large data resource of genomic copy number variation across neurodevelopmental disorders
Open accessAbstract
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), and obsessive-compulsive disorder (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ, 1,838 ASD, 427 ADHD and 222 OCD) and 1,769 family members, mainly parents. We identified rare CNVs, defined as those found in <0.1% of 10,851 population control samples. We found clinically relevant CNVs (broadly defined) in 284 (10.5%) of total subjects, including 22 (10.8%) among subjects with SCZ, 209 (11.4%) with ASD, 40 (9.4%) with ADHD, and 13 (5.6%) with OCD. Among all NDD subjects, we identified 17 (0.63%) with aneuploidies and 115 (4.3%) with known genomic disorder variants. We searched further for genes impacted by different CNVs in multiple disorders. Examples of NDD-associated genes linked across more than one disorder (listed in order of occurrence frequency) are NRXN1 , SEH1L , LDLRAD4 , GNAL , GNG13 , MKRN1 , DCTN2, KNDC1 , PCMTD2 , KIF5A , SYNM , and long non-coding RNAs: AK127244 and PTCHD1-AS . We demonstrated that CNVs impacting the same genes could potentially contribute to the etiology of multiple NDDs. The CNVs identified will serve as a useful resource for both research and diagnostic laboratories for prioritization of variants.
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Pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, ID, epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.
“It has also become clear that pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, intellectual disability (ID), epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [9]
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Insufficient Evidence for “Autism-Specific” Genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works
- Authors
- Zarrei, M., Burton, C. L., Engchuan, W., Young, E. J., Higginbotham, E. J., MacDonald, J. R., Trost, B., Chan, A. J. S., Walker, S., Lamoureux, S., Heung, T., Mojarad, B. A., Kellam, B., Paton, T., Faheem, M., Miron, K., Lu, C., Wang, T., Samler, K., Wang, X., Costain, G., Hoang, N., Pellecchia, G., Wei, J., Patel, R. V., Thiruvahindrapuram, B., Roifman, M., Merico, D., Goodale, T., Drmic, I., Speevak, M., Howe, J. L., Yuen, R. K. C., Buchanan, J. A., Vorstman, J. A. S., Marshall, C. R., Wintle, R. F., Rosenberg, D. R., Hanna, G. L., Woodbury-Smith, M., Cytrynbaum, C., Zwaigenbaum, L., Elsabbagh, M., Flanagan, J., Fernandez, B. A., Carter, M. T., Szatmari, P., Roberts, W., Lerch, J., Liu, X., Nicolson, R., Georgiades, S., Weksberg, R., Arnold, P. D., Bassett, A. S., Crosbie, J., Schachar, R., Stavropoulos, D. J., Anagnostou, E., & Scherer, S. W.
- Affiliations
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- Centre for Addiction and Mental Health (CA)
- Mount Sinai Hospital (CA)
- Hamilton Health Sciences (CA)
- Trillium Health Centre (CA)
- Wayne State University (US)
- University of Michigan (US)
- University of Alberta (CA)
- McGill University (CA)
- Memorial University of Newfoundland (CA)
- Children's Hospital of Eastern Ontario (CA)
- Queen's University (CA)
- Western University (CA)
- McMaster University (CA)
- University of Calgary (CA)
- Corresponding author
- Scherer, Stephen W.
- ORCID
- Burton, Christie L.
- Engchuan, Worrawat
- Young, Edwin J.
- Higginbotham, Edward J.
- MacDonald, Jeffrey R.
- Trost, Brett
- Heung, Tracy
- Mojarad, Bahareh A.
- Paton, Tara
- Faheem, Muhammad
- Lu, Chao
- Wang, Ting
- Wang, Xiaolin
- Costain, Gregory
- Hoang, Ny
- Pellecchia, Giovanna
- Wei, John
- Patel, Rohan V.
- Thiruvahindrapuram, Bhooma
- Roifman, Maian
- Merico, Daniele
- Drmic, Irene
- Speevak, Marsha
- Yuen, Ryan K. C.
- Vorstman, Jacob A. S.
- Marshall, Christian R.
- Wintle, Richard F.
- Rosenberg, David R.
- Hanna, Gregory L.
- Cytrynbaum, Cheryl
- Zwaigenbaum, Lonnie
- Elsabbagh, Mayada
- Fernandez, Bridget A.
- Carter, Melissa T.
- Lerch, Jason
- Liu, Xudong
- Nicolson, Rob
- Weksberg, Rosanna
- Arnold, Paul D.
- Bassett, Anne S.
- Crosbie, Jennifer
- Schachar, Russell
- Stavropoulos, Dimitri J.
- Anagnostou, Evdokia
- Scherer, Stephen W.
- Venue
- npj Genomic Medicine
- Published
- 2019-10-07
- Volume
- 4
- Issue
- 1
- Pages
- 26-26
- ISSN
- 2056-7944 (ISSN-L)
- PMC
- PMC6779875
- OpenAlex
- W2978273148
- Cited by
- 187
- References
- 50
- Citations by year
- 2026: 17 · 2025: 14 · 2024: 34 · 2023: 21 · 2022: 36 · 2021: 39 · 2020: 26
- FWCI
- 15.17
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- npj Genomic Medicine (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Scholarship@Western (Western University) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- Autism Speaks
- GlaxoSmithKline
- Genome Canada
- Government of Ontario
- Sick Kids Foundation
- University of Toronto
- Hospital for Sick Children
- Alberta Innovates
- National Institutes of Health
- Canadian Institutes of Health Research
- National Institute on Alcohol Abuse and Alcoholism (U10AA008401)
- National Institute of Mental Health (R01MH101493, R01MH085321)
- National Institute on Drug Abuse (R01DA013423, P50DA019706)
- National Human Genome Research Institute (U01HG004422, U01HG004446, U01HG004438, HHSN268200782096C)
- National Cancer Institute (P01CA089392, P50CA084724)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- copy number variation, neurodevelopmental disorders, autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, obsessive-compulsive disorder, shared genetic etiology, rare CNVs, aneuploidy, long non-coding RNA, variant prioritization
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