NAA15
Below is a summary for the NAA15 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full NAA15 Gene Guide
The online Gene Guide includes more information about NAA15 such as the chance of having another child with this condition, behavior and development concerns linked to NAA15-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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What is NAA15-related syndrome?
NAA15-related syndrome happens when there are changes to the NAA15 gene. These changes can keep the gene from working as it should.
Key Role
The NAA15 gene plays a key role in development. It makes chemical changes to molecules in cells known as proteins. These changes are important for cells to function properly.
Symptoms
Because the NAA15 gene is important in the development, many people who have NAA15-related syndrome have:
- Motor delays
- Developmental delay
- Intellectual disability, mild to severe
- Speech impairment
- Behavior issues, including autism
- Cardiac issues
- Seizures
- Visual issues that are caused by parts of the brain that control vision
How many people have NAA15-related syndrome?
As of 2023, about 66 people in the world with NAA15-related neurodevelopmental syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – NAA15 Facebook group
- NAA15 Families Together – Facebook group
- Geisinger Developmental Brain Disorder Gene Database – NAA15
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.
There is currently no GeneReviews for NAA15.
Research Article Summaries
We currently do not have any article summaries for NAA15, but we add resources to our website as they become available.
The information available about NAA15 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 NAA15 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 NAA15 genetic changes by taking part in our research. You can learn more about the project and sign up here.
Previous Quarterly Reports