Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Autism spectrum disorder (ASD) and mental retardation (MR) represent clinically distinct neurodevelopmental disorders with a complex genetic etiology. Using microarrays we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated ASD and MR patients; DNA sequencing of SHANK2 revealed additional variants including a de novo nonsense mutation and 7 rare inherited changes. Our findings further link common genes between ASD and intellectual disability. We analyzed a patients with autism spectrum disorder and mental retardation (with their related parents) using whole genome SNP arrays.