Alice Bertero1,2, Gergely David2, Adam Liska2, Alberto Galbusera2, Massimo Pasqualetti1,2, and Alessandro Gozzi2
1Department of Biology, Unit of Cell and Developmental Biology, University of Pisa, Pisa, Italy, 2Functional Neuroimaging Lab, Center for Neuroscience and Cognitive Systems, Istituto Italiano di Tecnologia, Rovereto, Italy
Autism spectrum disorder (ASD)
has been associated to reduced or aberrant functional brain connectivity
as measured with resting state fMRI (rsfMRI). However little is known on the
pathophysiological and genetic determinants underlying these alterations. Here we
show that mice recapitulating human chromosome 16p11.2
microdeletion, a trait associated with intellectual disability and high ASD
penetrance, exhibit reduced connectivity in prefrontal hubs of the mouse default
mode network, recapitulating a hallmark neuroimaging finding in ASD. These
findings establish a causal link between ASD-associated mutations and connectivity
alterations and identify a plausible macroscale substrate for the cognitive impairments
associated to 16p11.2 microdeletion.
