We also identified a patient with a duplication encompassing a related gene, CNTNAP4. Finally, two individuals in our cohort have overlapping deletions within AUTS2. This gene is disrupted by de novo balanced translocations in three unrelated individuals with mental retardation [54] and a pair of twins with autism and mental retardation [55], suggesting a role for AUTS2 in normal cognitive development. Here, AUTS2 is linked to autism.