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Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology.


ABSTRACT: Autism spectrum disorders (ASDs) are complex and heterogeneous developmental disabilities affecting an ever-increasing number of children worldwide. The diverse manifestations and complex, largely genetic aetiology of ASDs pose a major challenge to the identification of unifying neuropathological features. Here we describe the neurodevelopmental defects in mice that carry deleterious alleles of the Wdfy3 gene, recently recognized as causative in ASDs. Loss of Wdfy3 leads to a regionally enlarged cerebral cortex resembling early brain overgrowth described in many children on the autism spectrum. In addition, affected mouse mutants display migration defects of cortical projection neurons, a recognized cause of epilepsy, which is significantly comorbid with autism. Our analysis of affected mo

SUBMITTER: Orosco LA 

PROVIDER: S-EPMC4159772 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature