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

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.

journal_name

Nat Commun

journal_title

Nature communications

authors

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

doi

10.1038/s41467-020-18997-2

subject

Has Abstract

pub_date

2020-10-19 00:00:00

pages

5272

issue

1

issn

2041-1723

pii

10.1038/s41467-020-18997-2

journal_volume

11

pub_type

杂志文章

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