A complementary approach for elucidating gene effects on behavior is to study individuals with a known CNV that is associated with increased vulnerability to psychosis. In particular, CNV with relative higher frequency can be used to examine both common effects and those associated with variability in the deletion size and in intermediate phenotypes. The 22q11.2 Deletion Syndrome (22q11DS) is an example of such a CNV and is associated with about 25% increase risk for schizophrenia with onset in adolescence and young adulthood. We examined emotion identification performance in a large sample of individuals with this deletion and found significant deficits already evident in youth (Gur et al., 2014). Furthermore, fMRI studies indicate aberrant activation to facial stimuli (Andersson et al., 2008) and we found that amygdala overactivation was modulated by the emotion expressed (Gur et al., 2015). Multiple psychiatric diagnoses are associated with 22q11DS, related to developmental stage. A translational approach to social cognition can advance efforts toward a mechanistic account that will likely transcend current diagnostic boundaries. Applying fMRI tasks designed to probe the underlying circuitry of emotion identification
