EP300

Below is a summary for the EP300 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 chance of having another child with this condition, or specialists to consider for people with this condition.

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome happens when there are changes to the CREBBP gene or the EP300 gene. These changes can keep these genes from working as they should.

Key Role

The CREBBP and EP300 genes play a key role in controlling the activity of other genes.

Symptoms

Because the CREBBP and EP300 genes are important in the development of the body, many people who have Rubinstein-Taybi syndrome have:

Intellectual disability
Growth problems and short height
Behavior issues
Changes in facial features and the hands and feet

Do people who have Rubinstein-Taybi syndrome look different?

People who have Rubinstein-Taybi syndrome often have distinct features. Appearance can vary and can include some but not all of these features:

Short height
A small head, also called microcephaly
Facial features that are different from those of other family members
Broad thumbs that may be positioned differently on the hand
Big first toes

Speech

Ninety percent of people who have the syndrome have a speech delay and persistent difficulty with language fluency.

Growth

Short height and small head size are common among people who have the syndrome.

Feeding and Digestion

About 70 percent of people have gastrointestinal concerns.

Support Resources

Simons Searchlight Community – EP300 Facebook group
Geisinger Developmental Brain Disorder Gene Database – EP300

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 EP300 .

Research Article Summaries

We currently do not have any article summaries for EP300, but we add resources to our website as they become available.

The information available about EP300 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 EP300 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about EP300 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

We do not currently have any stories from EP300 families.

Click here to share your family’s story!