Intellectual disability affects approximately 1-3% of the general population. Most individuals with intellectual disability have a nonsyndromic form. A study by Hamdan F et al. identified mutations in the SYNGAP1 gene in individuals with intellectual disability. No pathogenic mutations were identified in normal controls or in individuals with autism or schizophrenia. Additionally, the parents of the patients with a SYNGAP1 mutation were not found to have the same mutation suggesting that they were de novo. Disruption of the SYNGAP1 gene is associated with moderate to severe intellectual disability as well as severe language impairment. It is inherited in an autosomal dominant manner.
This laboratory performs Sanger sequencing of the SYNGAP1 gene.