Seven probes were screened in the region associated with Miller-Dieker lissencephaly syndrome and Canavan disease in 17p13-pter, in HIC1, MGC3329, PAFAH1B1, ASPA, and TRPV1. In a boy with a diagnosis of autism, we observed an apparent deletion in a probe within the ASPA gene involved in Canavan disease. Here, PAFAH1B1 is linked to Canavan disease.