Mutations in SYNGAP1 cause intellectual disability, autism and a specific form of epilepsy by inducing haploinsufficiency
Original research article by M.H. Berryer et al. (2013).
Read the abstract here.
In this paper, we learn that SYNGAP1 plays an important role in a person’s learning and memory and may have implications in children with intellectual disabilities and/or autism. The majority of this article focuses on understanding how each mutation affects the gene’s ability to function, however, the behavioral, physical, and intellectual characteristics of these individuals are described in detail in the supplementary materials.
Five individuals with damaging variations (mutations) in the SYNGAP1 gene are described in this paper. Of the participants involved in this study, all five had some degree of intellectual disability, ranging from mild to moderate/severe. One individual (who was three at the time of evaluation) had no speech. Two others had some degree of speech/language delay. Four of the participants had an MRI, and all were normal. Three of the five reported some type of “abnormal” behavior, which included sleep difficulty, behavior issues, and/or psychological concerns.