Below is a summary for the SYNGAP1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as the chance of having another child with this condition, or specialists to consider for people with this condition.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with SYNGAP1 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!
To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
What is SYNGAP1-related Syndrome?
SYNGAP1-related syndrome happens when there are changes to the SYNGAP1 gene. These changes can keep the gene from working as it should.
The SYNGAP1 gene plays a key role in the development and function of the brain. It makes a protein that helps to control brain activity. When one copy of the SYNGAP1 gene is not working properly, the brain may become overactive.
Because the SYNGAP1 gene controls brain activity, changes in this gene can be linked to seizures and other challenges. SYNGAP1-related syndrome can affect the development of communication, social, and learning skills. Many people who have SYNGAP1-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Hyperactivity and sleep problems
- Autism or features of autism
- Joint and spine issues
- Low muscle tone
Do people who have SYNGAP1- syndrome look different?
People who have SYNGAP1-related syndrome do not look very different. Appearance can vary and can include some but not all of these features:
- Broad nasal bridge
- Long nose
- Full lower lip
Almost all children who have SYNGAP1-related syndrome have speech delay. Children are often late to start talking, and may have limited vocabulary.
FEEDING and DIGESTION ISSUES
5 out of 10 had constipation.
BRAIN and MUSCLE TONE
Low muscle tone, also called hypotonia, can cause delays in developmental milestones, such as sitting and walking, as well as a wide-based or unsteady walk. 8 out of 10 had low muscle tone. 7 out of 10 had epilepsy.
Research Article Summaries
Previous Registry Reports