Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review.

Details

Serval ID
serval:BIB_36CEF5CD2122
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review.
Journal
Biological psychiatry
Author(s)
Modenato C., Martin-Brevet S., Moreau C.A., Rodriguez-Herreros B., Kumar K., Draganski B., Sønderby I.E., Jacquemont S.
ISSN
1873-2402 (Electronic)
ISSN-L
0006-3223
Publication state
Published
Issued date
01/11/2021
Peer-reviewed
Oui
Volume
90
Number
9
Pages
596-610
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review ; Systematic Review
Publication Status: ppublish
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.
Keywords
Autism Spectrum Disorder/diagnostic imaging, Autism Spectrum Disorder/genetics, DNA Copy Number Variations, Humans, Magnetic Resonance Imaging, Neuroimaging, Schizophrenia/diagnostic imaging, Schizophrenia/genetics, Autism, Copy number variants, Psychiatric disorders, Schizophrenia, Structural imaging
Pubmed
Web of science
Open Access
Yes
Create date
21/09/2021 10:55
Last modification date
09/12/2021 6:40
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