REST
Below is a summary for the REST gene observed in research publications. This is not meant to take the place of medical advice.
What is REST-related syndrome?
REST-related syndrome happens when there are changes to the REST gene. These changes can keep the gene from working as it should.
Key Role
The REST gene plays an important role in controlling brain cell development.
Symptoms
Because the REST gene is important for the brain, some people may have:
- Autism
- Intellectual disability
- Deafness
- Chronic inflammation of the gums that can cause excess tissue to cover the teeth
Do people who have REST-related syndrome look different?
REST-related syndrome is very rare, and it is unknown if people with this condition look different.
How many people have REST-related syndrome?
As of 2022, at least 9 people with REST-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – REST Facebook group
Research Article Summaries
Below, we have summarized research articles about changes in the REST gene. We hope you find this information helpful.
The information available about REST 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.
Lu et al. (2014) found that the REST gene plays an important role in maintaining healthy neurons. The product of the gene functions to protect the brain from different processes related to aging (ie: oxidative stress).
This gene also interacts with the DYRK1A gene, which has been identified in several children with features of autism.
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 REST articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about REST genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from REST families.
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