503. Neurodevelopmental Consequences of Rare SETD1A Missense Variants Associated With Risk for Bipolar Disorder

Rare variants with large effects provide excellent opportunities to characterize causal mechanisms for complex disorders. In recent large-scale exome sequencing studies, SET Domain Containing 1A (SETD1A), an H3K4 methyltransferase, has emerged as the top, strongly supported risk gene for schizophrenia (P = 2.0e-12) and related disorders. To date, there have been no published studies of human neural cells with naturally occurring SETD1A variants, and little is known about the effects of these variants on brain development.