250. Gene Dosage Effects on Neurobehavioral Phenotypes and Development: Relevance to Idiopathic Neuropsychiatric Disorders

Abstract

22q11.2 and 16p11.2 genomic regions are dense with highly conserved brain-expressed genes. While the 22q11.2 deletion and 16p11.2 duplication confer greatly elevated risk for schizophrenia, the reciprocal 22q11.2 duplication and 16p11 deletion have lower risk of schizophrenia than the general population. However, both reciprocal copy number variants (CNVs) are associated with Intellectual Disability and Autism Spectrum Disorder (ASD). This ‘reverse-genetics’ approach can thus elucidate gene dosage effects that may differentiate risk versus protective factors for neuropsychiatric illness.