The image shows the SYNGAP1 Protein (Green) in the brain. The image is credited to Yoichi Araki.
The SYNGAP1 gene is located on Chromosome 6 and is responsible for producing the Syngap1 protein. This protein acts as a regulator in the synapses - where neurons communicate with each other.
A mutation of the SYNGAP1 gene leads to the gene not producing or producing less Syngap1 protein.
Without the right amount of Syngap1 protein we see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SynGAP1 patients.
SynGAP1 is considered a spectrum disorder since all patients are not affected exactly the same way or with the same severity. It is not known what impacts the symptoms or their severity. The list below is a combination of most seen symptoms. SynGAP1 patients do not always present all of these symptoms.
Syngap1 Syndrome is caused by a mutation on the SYNGAP1 gene (6p.21.32).
The human body is made of trillions of cells. Each cell contains 23 pairs of chromosomes (46 total). Each chromosome contains thousands of genes. Most genes also come in pairs and we get one copy from each parent.
The role of genes is to produce proteins. Proteins are used to regulate the body’s tissues and organs.
A gene can stop working or no longer work properly when a mutation occurs. A mutation is a mistake that happens, similar to a typo, when the DNA is copied from cell to cell or due to environmental factors.
A de novo mutation means the mutation is not inherited and happened very early in the process and non related to environmental factors. We could also call it “Bad luck” mutation. Most Syngap patients have denovo mutations.
The main types of mutations found are Nonsense, Missense, Frameshift, Duplication and Deletion. For more information on these you can visit: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/possiblemutations
SYNGAP1 mutations are surprisingly common, with the incidence reported as 1-4/10,000 individuals, or approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID, similar to more well known syndromes like Fragile X, Angelman and Rett Syndrome.
New SynGAP1 patients are identified each week. We have now more than 500 Syngap patients identified worldwide.
There is currently no cure or specific treatment for SynGAP1. However intense therapy can help SynGAP1 patients improve their skills and reach milestones.
The most common therapies available are Physical Therapy, Occupational Therapy, Speech Therapy, Developmental Therapy and Applied Behavioral Analysis (ABA) Therapy.
SynGAP1 patients respond well to alternative therapies, including hippotherapy, aqua therapy, music therapy, PROMPT Therapy, etc. Don’t worry if your child is taking longer than others. SynGAP patients will continue to make progress and reach key milestones at their own pace.
Research for treatment is happening around the world with labs located in the United States, Canada, Australia, India and Europe.