IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v11y2020i1d10.1038_s41467-020-18997-2.html
   My bibliography  Save this article

Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia

Author

Listed:
  • Clara A. Moreau

    (University of Montreal
    Centre de Recherche de l’Institut Universitaire de Gériatrie de Montréal)

  • Sebastian G. W. Urchs

    (Centre de Recherche de l’Institut Universitaire de Gériatrie de Montréal
    Montreal Neurological Institute and Hospital, McGill University)

  • Kumar Kuldeep

    (University of Montreal)

  • Pierre Orban

    (Centre de Recherche de l’Institut Universitaire en Santé Mentale de Montréal
    Université de Montréal, Pavillon Roger-Gaudry)

  • Catherine Schramm

    (University of Montreal
    Lady Davis Institute for Medical Research, Jewish General Hospital)

  • Guillaume Dumas

    (University of Montreal
    Human Genetics and Cognitive Functions, Institut Pasteur, Université de Paris)

  • Aurélie Labbe

    (Département des Sciences de la Décision, HEC)

  • Guillaume Huguet

    (University of Montreal)

  • Elise Douard

    (University of Montreal)

  • Pierre-Olivier Quirion

    (Centre de Recherche de l’Institut Universitaire de Gériatrie de Montréal
    Canadian Center for Computational Genomics, McGill University and Genome Quebec Innovation Center 740)

  • Amy Lin

    (Semel Institute for Neuroscience and Human Behavior and Department of Psychology, University of California, Los Angeles, Semel Institute/NPI)

  • Leila Kushan

    (Semel Institute for Neuroscience and Human Behavior and Department of Psychology, University of California, Los Angeles, Semel Institute/NPI)

  • Stephanie Grot

    (Centre de Recherche de l’Institut Universitaire en Santé Mentale de Montréal
    Université de Montréal, Pavillon Roger-Gaudry)

  • David Luck

    (University of Montreal)

  • Adrianna Mendrek

    (Bishop’s University)

  • Stephane Potvin

    (Université de Montréal, Pavillon Roger-Gaudry)

  • Emmanuel Stip

    (Université de Montréal, Pavillon Roger-Gaudry
    United Arab Emirates University, College of Medicine and health Sciences)

  • Thomas Bourgeron

    (Human Genetics and Cognitive Functions, Institut Pasteur, Université de Paris)

  • Alan C. Evans

    (Montreal Neurological Institute and Hospital, McGill University)

  • Carrie E. Bearden

    (Semel Institute for Neuroscience and Human Behavior and Department of Psychology, University of California, Los Angeles, Semel Institute/NPI)

  • Pierre Bellec

    (Centre de Recherche de l’Institut Universitaire de Gériatrie de Montréal)

  • Sebastien Jacquemont

    (University of Montreal
    University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine)

Abstract

16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but their impact on functional connectivity (FC) remains unclear. Here we report an analysis of resting-state FC using magnetic resonance imaging data from 101 CNV carriers, 755 individuals with idiopathic ASD, SZ, or ADHD and 1,072 controls. We characterize CNV FC-signatures and use them to identify dimensions contributing to complex idiopathic conditions. CNVs have large mirror effects on FC at the global and regional level. Thalamus, somatomotor, and posterior insula regions play a critical role in dysconnectivity shared across deletions, duplications, idiopathic ASD, SZ but not ADHD. Individuals with higher similarity to deletion FC-signatures exhibit worse cognitive and behavioral symptoms. Deletion similarities identified at the connectivity level could be related to the redundant associations observed genome-wide between gene expression spatial patterns and FC-signatures. Results may explain why many CNVs affect a similar range of neuropsychiatric symptoms.

Suggested Citation

  • Clara A. Moreau & Sebastian G. W. Urchs & Kumar Kuldeep & Pierre Orban & Catherine Schramm & Guillaume Dumas & Aurélie Labbe & Guillaume Huguet & Elise Douard & Pierre-Olivier Quirion & Amy Lin & Leil, 2020. "Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia," Nature Communications, Nature, vol. 11(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-18997-2
    DOI: 10.1038/s41467-020-18997-2
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-020-18997-2
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-020-18997-2?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Jakub Kopal & Kuldeep Kumar & Kimia Shafighi & Karin Saltoun & Claudia Modenato & Clara A. Moreau & Guillaume Huguet & Martineau Jean-Louis & Charles-Olivier Martin & Zohra Saci & Nadine Younis & Elis, 2024. "Using rare genetic mutations to revisit structural brain asymmetry," Nature Communications, Nature, vol. 15(1), pages 1-19, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-18997-2. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.