1Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States, 2Department of Biomedical Engineering, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States
Autism
spectrum disorder (ASD) is a complex genetic neurodevelopmental disorder. Differential
expression patterns, splice-variants, and mutations in Neurexin1 (Nrxn1) have been implicated in the
neurodevelopment of ASD. New targeted genome editing technologies have yielded
the first cogent genetic animal models of ASD with animals harboring biallelic
deletions of Nrxn1, allowing for the
assessment of gene-specific perturbations in white matter composition and
organization. Interrogating changes in brain structure attributable to a specific
genetic allele is the first step towards the development and validation of an objective
imaging biomarker, which can contribute to the diagnosis of ASD.
