Below is a summary for the ATRX gene observed in research publications. This is not meant to take the place of medical advice.
What is ATRX-related syndrome?
ATRX-related syndrome happens when there are changes to the ATRX gene. These changes can keep the gene from working as it should. This syndrome is also known as alpha thalassemia X-linked intellectual disability syndrome.
The ATRX gene helps to keep the cell’s genetic material intact.
Because the ATRX gene is important in the development and function of brain cells, many people who have ATRX-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Low muscle tone
- Changes in the genitals
- Blood disorders, including alpha thalassemia, which is a problem in the production of the oxygen-carrying protein, known as hemoglobin, in red blood cells
Do people with ATRX-related syndrome look different?
People who have ATRX-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Small head size
- Upsweep of the frontal hair
- Widely spaced eyes
- Short triangular nose
80 to 90 percent of people who have ATRX-related syndrome have low muscle tone.
75 to 85 percent have small head size, known as microcephaly. 60 to 70 percent are short.
Everyone who has ATRX-related syndrome that has been studied to date has a developmental delay or intellectual disability.
Learn more about ATRX and connect with other Simons Searchlight families with the resources below:
- Simons Searchlight Community – ATRX Facebook group
- ATRX Research Alliance – website
- Unique – ATRX Guidebook
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 ATRX.
Research Article Summaries
We currently do not have any article summaries for ATRX, but we add resources to our website as they become available.
The information available about ATRX 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 ATRX articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about ATRX 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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