The PPP3CA gene is typically responsible for the production of a protein called calcineurin,
which plays an important role in brain cell communication. Mutations interfering with proper neuronal transmission can lead to neurodevelopmental, neurological, and neuropsychiatric disorders, including severe epilepsy. Because the PPP3CA gene is important for many parts of the body, some people may have global developmental delays, intellectual disabilities, seizures, difficulty speaking, difficulty eating, sleep problems, autism, visual impairment, kidney/urinary issues, low muscle tone, or bone defects.
De Novo PPP3CA variants were first discovered in late 2017. Since then, we have discovered nearly 60 children diagnosed worldwide. This genetic disease can be diagnosed through whole genome sequencing or epilepsy genetic testing.
The PPP3CA Hope Foundation is a parent-led non-profit organization with the mission to raise awareness, provide support for families impacted by mutations in the PPP3CA gene, and promote and fund research directed towards a cure for individuals with PPP3CA variants.
Your gift will help us fund research models to better understand PPP3CA. The PPP3CA Hope Foundation is working with researchers to better characterize the gene in hopes to shed light on potential treatments for our children and beyond.
To learn more about our researchers and their plan to find a cure, please visit: www.ppp3ca.org
Please join the PPP3CA Hope Foundation in our 2nd Annual 5k Run/Walk campaign.
Your donation, advocacy, and support is greatly appreciated.
Below is the story of a local girl living with PPP3CA-related rare disease:
Claire is a 3 year old girl from Topeka, Kansas. Claire lives with her parents and two big brothers who adore her. She loves dance parties, snack time, Minions and Peppa Pig, golf cart rides, reading stories, water play, and exploring outside. Claire is sweet, curious, and affectionate. She loves to pretend play with her dolls and play kitchen. She especially loves laughing and joining in on all the shenanigans her brothers come up with.
After the onset of seizures in February 2024, Claire was diagnosed with epilepsy just before 2 years of age. Claire underwent genetic testing to find a cause for her seizures and global developmental delays. The results confirmed that Claire had a de novo mutation in her PPP3CA gene. Variants found in the PPP3CA gene have been known to cause neurodevelopmental disease and severe epilepsy. Claire is among a rare community of children found around the world living with this condition.
Claire has expressed global developmental delays in gross motor skills and language skills since 6 months of age. At 20 months of age, she began walking. She has had AFOs and orthotics to help with tone and stability for her walking. She has a communication device that serves as an additional mode of communication since she is non-verbal. Claire has drug-resistant epilepsy and presents with multiple seizure types. Her developmental milestones have been delayed for a year due to refractory seizures and developmental regression. Claire takes daily anti-seizure medications and is involved in weekly physical, occupational, and speech therapies.
Although this journey has been difficult and unexpected, we celebrate joy when we can and try to live by Claire's example of being resilient through hardships.
We hope that awareness can help raise funds for medical research breakthroughs, educate communities about rare diseases, and create a world more empathetic, empowering, and inclusive for those with disabilities.
Thank you for being part of this mission!
