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.
Simons Searchlight just released a new report that includes updated information on your genetic community. The report also focuses on development using a survey called the Vineland Adaptive Behavior Scales. Caregivers share how their family members with our genetic condition respond to different skills like communication, self-care, and social skills. This survey helps doctors and researchers understand how our skills change over time.
If you want to help contribute to this research, it’s important to participate in surveys. To view past registry reports and learn more, go to the Simons Searchlight website and click on “Previous Registry Reports.”
Join Simons Searchlight today to be included in future reports!
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.
- Simons Searchlight Community – SYNGAP1 Facebook group
- SYNGAP1 Foundation Website – bridgesyngap.org
- SYNGAP Research Fund Foundation Website – syngapresearchfund.org
- SYNGAP Global Network – syngapglobal.net
- Unique – SYNGAP1 Guidebook
- Child Neurology Foundation – SYNGAP1-Related Disorder
- Geisinger Developmental Brain Disorder Gene Database – SYNGAP1
- “My Special Boy” – Blog by a parent
Research Article Summaries
Below, we have summarized research articles about changes in the SYNGAP1 gene. We hope you find this information helpful. The information available about SYNGAP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SYNGAP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
- SYNGAP1: Mind the Gap Original research article by N. Jeyabalan and J.P. Clement (2016). Read the article here and the Simons Searchlight summary here.
- De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability Original research article by M.J. Parker et al. (2015). Read the article here and the Simons Searchlight summary here.
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk Original research article by B.J. O’Roak et al. (2014). Read the article here and the Simons Searchlight summary here.
- Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study Original research article by D.A. Dyment et al. (2014). Read the abstract here and the Simons Searchlight summary here.
- A polygenic burden of rare disruptive mutations in schizophrenia Original research article by S.M. Purcell et al. (2014). Read the article here and the Simons Searchlight Summary here.
- Clinical whole-exome sequencing for the diagnosis of Mendelian disorders Original research article by Y. Yang et al. (2013). Read the abstract here and the Simons Searchlight summary here.
- 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 and the Simons Searchlight summary here.
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study Original research article by A. Rauch et al. (2012). Read the abstract here and the Simons Searchlight summary here.
- De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia Original research article by B. Xu et al. (2012). Read the abstract here and the Simons Searchlight summary here.
- A de novo paradigm for mental retardation (please note: “mental retardation” is out-of-date terminology; we now use the term “intellectual disability”) Original research article by L.E. Vissers et al. (2010). Read the abstract here and the Simons Searchlight summary here.
Help the Simons Searchlight team learn more about SYNGAP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.