SYNGAP1

Learn more about the SYNGAP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for SYNGAP1.

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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!