PPP2R1A

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.

Key Role

The PPP2R1A gene plays an important role in brain cells.

Symptoms

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
Seizures
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.

Support Resources

Simons Searchlight Community – PPP2R1A Facebook group
PPP2R5D Foundation Website – JordansGuardianAngels.org

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 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.

Research Opportunities

Simons Searchlight

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.

Family Stories

We do not currently have any stories from PPP2R1A families.

Click here to share your family’s story!