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

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, Leila Kushan, Stephanie Grot, David Luck, Adrianna Mendrek, Stephane Potvin, Emmanuel Stip, Thomas Bourgeron, Alan C. Evans, Carrie E. Bearden, Pierre Bellec and Sebastien Jacquemont ()
Additional contact information
Clara A. Moreau: University of Montreal
Sebastian G. W. Urchs: Centre de Recherche de l’Institut Universitaire de Gériatrie de Montréal
Kumar Kuldeep: University of Montreal
Pierre Orban: Centre de Recherche de l’Institut Universitaire en Santé Mentale de Montréal
Catherine Schramm: University of Montreal
Guillaume Dumas: University of Montreal
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
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
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
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

Nature Communications, 2020, vol. 11, issue 1, 1-12

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-18997-2

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