English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Lessons learnt 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 learnt from neuroimaging studies of Copy Number Variants, a systematic review. Biological Psychiatry. doi:10.1016/j.biopsych.2021.05.028.

Item is

Files

show Files
hide Files
:
Modenato_pre.pdf (Preprint), 4MB
Name:
Modenato_pre.pdf
Description:
-
OA-Status:
Hybrid
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
-
License:
-

Locators

show

Creators

show
hide
 Creators:
Modenato, Claudia1, Author
Martin-Brevet, Sandra1, Author
Moreau, Clara A.2, 3, Author
Rodriguez-Herreros, Borja4, Author
Kumar, Kuldeep2, 5, Author
Draganski, Bogdan1, 6, Author           
Sønderby, Ida Elken7, 8, 9, Author
Jacquemont, Sebastien2, 5, Author
Affiliations:
1Laboratoire 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 Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France, ou_persistent22              
4Centre hospitalier universitaire vaudois, Lausanne, Switzerland, ou_persistent22              
5Department of Pediatrics, University of Montréal, QC, Canada, ou_persistent22              
6Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              
7Department of Medical Genetics, Oslo University Hospital, Norway, ou_persistent22              
8NORMENT Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Norway, ou_persistent22              
9KG Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Norway, ou_persistent22              

Content

show
hide
Free keywords: Copy number variants; Neuroimaging; Autism; Schizophrenia; Structural imaging; Psychiatric disorders
 Abstract: Pathogenic Copy Number Variants (CNVs) and aneuploidies alter gene dosage and are associated with neurodevelopmental psychiatric disorders (NPDs) such as autism spectrum disorder or schizophrenia.

Brain mechanisms mediating genetic risk for NPDs remain largely unknown, but there is a rapid increase in morphometry studies of CNVs using T1-weighted structural MRI. 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 MRI studies on 20 CNVs at the15q11.2, 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 chromosome 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 suggests 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 MRI 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.

Details

show
hide
Language(s): eng - English
 Dates: 2021-05-282020-10-262021-05-302021-06-15
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1016/j.biopsych.2021.05.028
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

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