Below is a summary for the PPP2R5D gene observed in research publications. This is not meant to take the place of medical advice.
Simons Searchlight just released a new report that includes updated information on your genetic community. The report also focuses on development using a survey called the Vineland Adaptive Behavior Scales. Caregivers share how their family members with our genetic condition respond to different skills like communication, self-care, and social skills. This survey helps doctors and researchers understand how our skills change over time.
If you want to help contribute to this research, it’s important to participate in surveys. To view past registry reports and learn more, go to the Simons Searchlight website and click on “Previous Registry Reports.”
Join Simons Searchlight today to be included in future reports!
What is PPP2R5D-related syndrome?
PPP2R5D-related syndrome happens when there are changes to the PPP2R5D gene. These changes can keep the gene from working as it should.
The PPP2R5D protein is an enzyme that plays an important role in the development and function of brain cells.
Because the PPP2R5D gene is important for the brain, some people may have:
- Intellectual disability
- Low muscle tone
- Delayed walking
- Language impairment
- Behavior issues or impulses
- Low blood pressure
Do people who have PPP2R5D-related syndrome look different?
People who have PPP2R5D-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Widely spaced eyes
- Large, noticeable forehead
- Low ear lobes
- Eye issues
- Bone and joint issues
How many people have PPP2R5D-related syndrome?
As of 2023, about 103 people with PPP2R5D-related syndrome have been described in medical research.
- Simons Searchlight Community – PPP2R5D 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. Check out the GeneReviews for PPP2R5D.
Research Article Summaries
Below, we have summarized research articles about changes in the PPP2R5D gene. We hope you find this information helpful. The information available about PPP2R5D is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 PPP2R5D articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
- De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism Original research article by L. Shang et al. (2016) Read the abstract here and the Simons Searchlight summary here.
- B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability Original research article by G. Houge et al. (2015) Read the abstract here and the Simons Searchlight summary here.
Help the Simons Searchlight team learn more about PPP2R5D 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.
Stories from PPP2R5D families:
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