SYNGAP1

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.

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

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
SPEECH

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.

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Support Resources

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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.

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.

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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.

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Family Stories

Stories from SYNGAP1 families:

Click here to share your family’s story!