Below is a summary for the DNMT3A gene observed in research publications. This is not meant to take the place of medical advice.

What is DNMT3A-related syndrome?

DNMT3A-related syndrome happens when there are changes in the DNMT3A gene. These changes can keep the gene from working as it should.

Genetic variants in DNMT3A can cause Tatton-Brown-Rahman syndrome or Heyn-Sproul-Jackson syndrome. The type of genetic condition a person has depends on the location of the genetic variant within the gene.

Key Role

The DNMT3A gene plays an important role in controlling other genes, inactivating DNA, and inactivating the X chromosome.


People with Tatton-Brown-Rahman syndrome may have:

  • Intellectual disability
  • Seizures
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Low muscle tone
  • Some increased risk for blood cancers

People with Heyn-Sproul-Jackson syndrome may have:

  • Global developmental delay
  • Intellectual disability
  • Speech issues

Do people who have DNMT3A genetic variants look different?

People with Tatton-Brown-Rahman syndrome may have:

  • Tall height
  • Larger than average head
  • Hypermobile joints
  • Sideways curvature of the spine, also called scoliosis

People with Heyn-Sproul-Jackson syndrome may have:

  • Short height
  • Low weight
  • Smaller than average head
  • Thinning hair

How many people have DNMT3A genetic variants?

As of 2021, about 21 people in the world with DNMT3A genetic variants that lead to a neurodevelopmental condition have been described in medical research. This does not include people who have genetic changes that cause cancer without a neurodevelopmental condition.


Support Resources


Research Article Summaries

We currently do not have any article summaries for DNMT3A, but we add resources to our website as they become available.

The information available about DNMT3A 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 DNMT3A 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 DNMT3A 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 DNMT3A families.

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