Below is a summary for the PPP2R1A gene observed in research publications. This is not meant to take the place of medical advice.
What is PPP2R1A-related syndrome?
PPP2R1A-related syndrome happens when there are changes to the PPP2R1A gene. These changes can keep the gene from working as it should.
The PPP2R1A gene plays an important role in brain cells.
Because the PPP2R1A gene is important for the brain, some people may have:
- Difficulty speaking, or inability to speak
- Inability to walk
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart defects at birth
- Attention deficit hyperactivity disorder, also called ADHD
- Feeding issues
Do people who have PPP2R1A-related syndrome look different?
People who have PPP2R1A-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Taller than average height
- Smaller or larger than average head size
- Wide-set eyes
- Open mouth
How many people have PPP2R1A-related syndrome?
As of 2022, about 50 people with PPP2R1A-related syndrome have been described in medical research.
- Simons Searchlight Community – PPP2R1A Facebook group
- PPP2R5D Foundation Website – JordansGuardianAngels.org
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 PPP2R1A.
Research Article Summaries
We currently do not have any article summaries for PPP2R1A, but we add resources to our website as they become available.
The information available about PPP2R1A 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 PPP2R1A articles can be found here.
Help the Simons Searchlight team learn more about PPP2R1A 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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