ASD is the first psychiatric disorder for which exome sequencing using substantial numbers of samples has been published. Three recent papers describe the results from exome sequencing of ~600 trios, and identify roles for de novo exonic mutations in SCN2A, KATNAL2, and CHD8 in the pathogenesis of ASD. 83–85 Intriguingly, all three studies noted an increased rate of de novo exonic mutations in older parents (with the mutations generally being of paternal origin), 83–85 and pathway analyses reported in two of the studies found that genes containing de novo exonic variation were more closely connected in reference to protein-protein interaction databases. 83,84 Additional sequencing studies are in progress.
