A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

A two-stage genetic study is performed in which genomewide linkage and family-based association mapping is followed up by association and replication studies in an independent sample. It is concluded that a common variant in contactin-associated protein-like 2 (CNTNAP2) is associated with increased risk for autism in two independent family-based samples and exhibits a parent-of-origin bias.