In humans, a de novo missense (c.110G > A) mutation resulting in a p.C37Y substitution to DENR was identified in a patient diagnosed with autism spectrum disorder (Neale et al., 2012), a neurodevelopmental disorder that is associated with disruptions to cortical neuron positioning, dendritogenesis, and synaptogenesis (Barkovich et al., 2005, Barkovich et al., 2012, Kelleher and Bear, 2008, Stoner et al., 2014, Wegiel et al., 2010). The gene discussed is DENR; the disease is autism spectrum disorder.