SYNGAP1

Below is a summary for the SYNGAP1 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full SYNGAP1 Gene Guide

The online Gene Guide includes more information about SYNGAP1 such as the chance of having another child with this condition, behavior and development concerns linked to SYNGAP1 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest SYNGAP1 Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.

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.

Key Role

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.

Symptoms

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
Seizures
Joint and spine issues
Low muscle tone
Constipation

Support Resources

Simons Searchlight Community – SYNGAP1 Facebook group
SYNGAP1 Foundation Website – bridgesyngap.org
SYNGAP Research Fund Foundation Website – syngapresearchfund.org
- SYNGAP Research Fund Facebook Page
- SYNGAP Research Fund Twitter
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.

Research Opportunities

Simons Searchlight

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.

Family Stories

Stories from SYNGAP1 families:

Click here to share your family’s story!

Previous Registry Reports