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  Lessons learned from neuroimaging studies of copy number variants: A systematic review

Modenato, C., Martin-Brevet, S., Moreau, C. A., Rodriguez-Herreros, B., Kumar, K., Draganski, B., et al. (2021). Lessons learned from neuroimaging studies of copy number variants: A systematic review. Biological Psychiatry, 90(9), 596-610. doi:10.1016/j.biopsych.2021.05.028.

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Modenato, Claudia1, Author
Martin-Brevet, Sandra1, Author
Moreau, Clara A.2, 3, Author
Rodriguez-Herreros, Borja4, Author
Kumar, Kuldeep2, Author
Draganski, Bogdan1, 5, Author           
Sønderby, Ida E.6, 7, 8, Author
Jacquemont, Sébastien1, 9, Author
1Département des Neurosciences Cliniques, Laboratoire de Recherche en Neuroimagerie (LREN), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
2CHU Sainte-Justine Research Center, University of Montréal, QC, Canada, ou_persistent22              
3Department of Neuroscience, Institut Pasteur, Paris, France, ou_persistent22              
4Centre cantonal autisme (CCA), Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
5Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              
6Department of Medical Genetics, Oslo University Hospital,, ou_persistent22              
7Division of Mental Health and Addiction, Oslo University Hospital, Norway, ou_persistent22              
8KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Norway, ou_persistent22              
9Department of Pediatrics, University of Montréal, QC, Canada, ou_persistent22              


Free keywords: Autism; Copy number variants; Neuroimaging; Psychiatric disorders; Schizophrenia; Structural imaging
 Abstract: Pathogenic copy number variants (CNVs) and aneuploidies alter gene dosage and are associated with neurodevelopmental psychiatric disorders such as autism spectrum disorder and schizophrenia. Brain mechanisms mediating genetic risk for neurodevelopmental psychiatric disorders remain largely unknown, but there is a rapid increase in morphometry studies of CNVs using T1-weighted structural magnetic resonance imaging. Studies have been conducted one mutation at a time, leaving the field with a complex catalog of brain alterations linked to different genomic loci. Our aim was to provide a systematic review of neuroimaging phenotypes across CNVs associated with developmental psychiatric disorders including autism and schizophrenia. We included 76 structural magnetic resonance imaging studies on 20 CNVs at the 15q11.2, 22q11.2, 1q21.1 distal, 16p11.2 distal and proximal, 7q11.23, 15q11-q13, and 22q13.33 (SHANK3) genomic loci as well as aneuploidies of chromosomes X, Y, and 21. Moderate to large effect sizes on global and regional brain morphometry are observed across all genomic loci, which is in line with levels of symptom severity reported for these variants. This is in stark contrast with the much milder neuroimaging effects observed in idiopathic psychiatric disorders. Data also suggest that CNVs have independent effects on global versus regional measures as well as on cortical surface versus thickness. Findings highlight a broad diversity of regional morphometry patterns across genomic loci. This heterogeneity of brain patterns provides insight into the weak effects reported in magnetic resonance imaging studies of cognitive dimension and psychiatric conditions. Neuroimaging studies across many more variants will be required to understand links between gene function and brain morphometry.


Language(s): eng - English
 Dates: 2021-05-282020-10-262021-05-302021-06-142021-11-01
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1016/j.biopsych.2021.05.028
Other: epub 2021
PMID: 34509290
 Degree: -



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Grant ID : CIHR_400528
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Funding organization : Canadian Institutes of Health Research (CIHR)
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Grant ID : 32003B_135679; 32003B_159780; 324730_192755; CRSK-3_190185
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Funding organization : Swiss National Science Foundation (SNSF)
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Grant ID : 2020060
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Funding organization : South-Eastern Norway Regional Health Authority
Project name : Horizon 2020
Grant ID : 847776
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Funding organization : European Union
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Grant ID : 223273
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Funding organization : Research Council of Norway
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Grant ID : SKGJ-MED-021
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Funding organization : Kristian Gerhard Jebsen Stiftelsen
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Source 1

Title: Biological Psychiatry
  Other : Biol. Psychiatry
Source Genre: Journal
Publ. Info: New York : Elsevier
Pages: - Volume / Issue: 90 (9) Sequence Number: - Start / End Page: 596 - 610 Identifier: ISSN: 0006-3223
CoNE: https://pure.mpg.de/cone/journals/resource/954925384111