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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : Nature communications

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Nature communications - 19 Oct 2020

Moreau CA, Urchs SGW, Kuldeep K, Orban P, Schramm C, Dumas G, Labbe A, Huguet G, Douard E, Quirion PO, Lin A, Kushan L, Grot S, Luck D, Mendrek A, Potvin S, Stip E, Bourgeron T, Evans AC, Bearden CE, Bellec P, Jacquemont S,

Link to Pubmed [PMID] – 33077750

Link to DOI [DOI] – 10.1038/s41467-020-18997-2

Nat Commun 2020 Oct; 11(1): 5272

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.

https://pubmed.ncbi.nlm.nih.gov/33077750