Updated: Apr 25, 2021
About Hao-Fountain Syndrome
Hao-Fountain Syndrome is a haploinsufficient condition caused by variants in the USP7 gene, located on chromosome 16p13.2. As of March 2021, there are 82 known Hao-Fountain patients worldwide. The disease's incidence and prevalence remain unknown. Patients with this disorder often go undiagnosed or misdiagnosed. It was officially named Hao-Fountain Syndrome in 2020. It has also been called HAFOUS and Chromosome 16p13.2 Deletion Syndrome.
Hao-Fountain Syndrome Clinical Features
Approximately half of the known patient population suffers from epilepsy. Other symptoms include developmental delay/intellectual disability, autism spectrum disorder, abnormal brain MRIs, speech impairment, hypotonia, gastrointestinal issues, and eye anomalies.
Get to Know Foundation for Hao-Fountain Syndrome USP7 Gene
The Foundation for USP7 Related Disease was started in 2017 by a group of parents to children with Hao-Fountain Syndrome. Our goal is to cure this disease by (1) finding more patients and (2) funding research. In our quest for a cure, we seek projects to help us do things like:
• Uncover methods of activating USP7 to rescue our haploinsufficient phenotype and
• Understand how alterations in proper functioning of endosomal protein recycling cause seizures and other neurological problems.
I am Especially Proud of...
We are proud of how many patients we have found. From our foundation's inception date, we have grown from 25 to 82 families worldwide. We have a vibrant and vocal community across the United States and Canada, and throughout Europe.
Excited to REN because...
We always seek to collaborate with others. We are a member of COMBINEDBrain and have seen how important it is that we talk to each other and share resources as much as possible. This can take the form of conversations or even communications that provide others with our templates and work product that has made an impact. Sharing our homework truly matters. That sharing leads to cures.
My Journey and Motivation...
Our daughter Tess was the 8th known patient in the world with this disease. My wife and I went for years without knowing her diagnosis. When we finally found our tribe and started this organization together, we rejoiced. Now, whenever a new family finds us, we are thrilled to welcome them into our circle. It's more than having a community to whom you can ask questions about symptoms and such. It is like our second family, which is growing all the time, with each new diagnosis.
By Bo Bigelow, Chairman, Foundation for Hao-Fountain Syndrome USP7 Gene