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Abstract #2233

Homozygous loss of autism-risk gene CNTNAP2 results in reduced local and long-range prefrontal connectivity

Adam Liska1,2, Ryszard Gomolka2, Mara Sabbioni3, Alberto Galbusera2, Stefano Panzeri4, Maria Luisa Scattoni3, and Alessandro Gozzi2

1CIMeC, Center for Mind/Brain Sciences, University of Trento, Rovereto, Italy, 2Functional Neuroimaging Laboratory, Center for Neuroscience and Cognitive Systems @ UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy, 3Neurotoxicology and Neuroendocrinology Section, Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy, 4Neural Computation Laboratory, Center for Neuroscience and Cognitive Systems @ UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy

Functional connectivity aberrancies as measured with resting-state fMRI (rsfMRI) have been consistently observed in the brains of autism spectrum disorders (ASD) patients. However, genetic and neurobiological underpinnings of these findings remain unclear. Here we used rsfMRI to show that homozygous mice lacking the strongly ASD-associated gene CNTNAP2 exhibit default-mode network connectivity alterations associated with reduced social investigation, a core “autism trait” in mice. These findings reveal a causal link between an ASD-associated mutation and functional connectivity aberrancies and suggest that homozygous loss-of-function mutations in CNTNAP2 may predispose to ASD through a selective dysregulation of functional coupling between integrative cortical areas.

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