A SYNGAP1 gene mutation causes non-syndromic intellectual disabilities that are usually apparent early in childhood.
These symptoms, ranging from mild to severe, can include weak muscle tone (hypotonia) and delayed development of speech and motor skills. Seizures (epilepsy), as well as hyperactivity and autism, are also common.
These symptoms result from mutations in the SYNGAP1 gene. Located in the brain, the SYNGAP1 gene provides instructions for making the SynGAP protein found at the junctures between nerve cells in the brain. The mutation is typically spontaneous, as it is usually neither inherited from a parent nor caused by environmental factors. However, if one parent contributes an abnormal SYNGAP1 gene, a child can develop symptoms.
This disability is estimated to account for 1 to 2 percent of intellectual disability cases, making it a rare diagnosis, with only about 1 million individuals affected worldwide. The condition appears to be equally prevalent in men and women.
Diagnosis can be challenging, as brain imaging techniques such as MRIs don’t usually show any specific neural abnormalities. Physicians often begin the diagnosis process with a genome-wide test to identify gene mutations. There are no known disease-altering treatments for SYNGAP1-related non-syndromic intellectual disability. Treatment plans are based on the signs and symptoms present in each person.
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Patients with this condition are treated by specialists in our Neurology Program. Neurologists at Kennedy Krieger Institute provide diagnostic services, therapeutic interventions and genetic counseling for a broad range of disorders affecting the brain and central nervous system in infants, children and adolescents. They also see adults in specific cases to treat the individual throughout the lifespan.