SHANK2 mutations are relatively rare risk factors for autism spectrum disorders (ASD) with mild to severe intellectual deficiency (ID). It is estimated that approximately 1/2,000 patients with ASD are carrying a deleterious SHANK2 mutation (e.g. de novo, LoF or deletions). Mutations are often de novo but inherited SHANK2 LoF mutations may exist at very low frequency in the general population. ASD are neurodevelopmental disorders characterized by impairments in social interactions as well as the manifestation of repetitive behaviors and restricted interests.
SHANK2