A Brief Overview on SYNGAP1 Gene Related Autism

Mutations in genes encoding synaptic proteins are autism spectrum disorders in nearly half of the cases of SYNGAP syndrome. Premature development of dendritic spine synapses in the early postnatal period led to increased excitability in the hippocampus and behavioral abnormalities. Mutations in SYNGAP1 have minimal impact on spine synapse function when induced after critical developmental windows closed, and repairing these mutations in adulthood did not improve behavior and cognition. SYNGAP protein plays an important role in regulating neural excitability during development, influencing cognitive abilities throughout life. The timing of dendritic spine synapse maturation in early life is crucial for normal intellectual development. SYNGAP 1 gene is a high-risk gene for autism spectrum disorder. In this brief overview we focus on the relationship between mutations in the SYNGAP gene and autism spectrum disorders in childhood.