We have identified microdeletions that directly disrupt the PTCHD1 gene in males in three families affected with either ASD, ID or learning disability. These deletions are maternally inherited and were not observed in more than 10,000 controls, which indicates that these alterations are associated with ASD and ID. We also report seven maternally inherited missense mutations in eight male probands. These variants were not seen in more than 500 controls, which further supports a possible role of this gene in autism and ID.
