Two de novo missense variants in the SRGAP3 gene (one predicted to be probably damaging, the other predicted to be possibly damaging) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014.
GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons.
Type of Disorder
The contribution of de novo coding mutations to autism spectrum disorder.