EP300

The information for this summary of EP300-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full EP300 Gene Guide

The online Gene Guide includes more information about EP300 such as the chance of having another child with this condition, behavior and development concerns linked to EP300-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is EP300 syndrome?

EP300-related syndrome happens when there are changes in the EP300 gene. These changes can keep the gene from working as it should.

A related gene called CREBBP has a similar function to the EP300 gene.

Key Role

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

Symptoms

Because the EP300 gene is important in brain development and function, many people who have EP300-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Speech delay
  • Smaller than average head size
  • Feeding issues
  • Lower than average muscle tone
  • Autism
  • Hyperactivity

How many people have EP300-related syndrome?

As of 2024, at least 214 people with EP300-related syndrome have been identified in a medical clinic. Scientists estimate that the condition happens in 1 in 100,000 to 1 in 125,000 live births.

Learn more about the EP300 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 EP300.

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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.

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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.

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Family Stories

We do not currently have any stories from EP300 families.

Click here to share your family’s story!