DNMT3A
The information for this summary of DNMT3A-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full DNMT3A Gene Guide
The online Gene Guide includes more information about DNMT3A such as the chance of having another child with this condition, behavior and development concerns linked to DNMT3A-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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.
Symptoms
People with Tatton-Brown-Rahman syndrome may have:
- Intellectual disability
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Low muscle tone
- Some increased risk for blood cancers
- Larger than average head size, also called macrocephaly
- Taller than average
- Obesity
People with Heyn-Sproul-Jackson syndrome may have:
- Global developmental delay
- Intellectual disability
- Speech issues
- Smaller than average head size, also called microcephaly
- Short height and low weight
How many people have DNMT3A-related syndrome?
As of 2024, at least 115 people with genetic variants in DNMT3A have been described in medical research.
Support Resources
- Simons Searchlight Community – DNMT3A Facebook group
- Tatton Brown Rahman Syndrome Community Website – tbrsyndrome.org
– Tatton Brown Rahman Syndrome Community – Facebook page
– Tatton Brown Rahman Syndrome Community – Twitter - Geisinger Developmental Brain Disorder Gene Database – DNMT3A
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 DNMT3A.
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.
Click here to share your family’s story!