Fig. 2. Specific studies in humans and mice with ASD showing functional brain changes correlated with CNTNAP2 gene.

The CNTNAP2 gene is associated with increased frontal lobe connectivity¹¹⁷ and increased connectivity in ASD risk allele carriers within Broca’s area¹¹⁸. Studies on mice show that the loss of CNTNAP2 gene impairs axonal growth⁷⁵, reduces functional connectivity in the prefrontal cortex¹¹⁴, and hyperactive AKT/mTOR pathway¹⁴⁹.