Portland, Aug 7, 2020 (Issuewire.com) - The Foundation for USP7-Related Diseases today announced OMIM® (Online Mendelian Inheritance in Man®) has named the disorder caused by a mutation of the USP7 gene: Hao-Fountain Syndrome. This is a major milestone for the Foundation for USP7-Related diseases and for those diagnosed with a mutation of the USP7 gene.
USP7 is a protein-coding gene that plays a role in tumor suppression, transcriptional regulation, immune response, and endosomal protein recycling. Individuals who are born with a mutation in USP7 have been found to have a neurodevelopmental disorder called Hao-Fountain Syndrome (HAFOUS). There are currently 70 people worldwide diagnosed with Hao-Fountain Syndrome.
To learn more about Hao-Fountain Syndrome, visit www.hafous.org. To read more from OMIM, click here.
About Foundation for USP7-Related Diseases: We are a non-profit organization dedicated to finding a cure for Hao-Fountain Syndrome. Our vision is to provide a future of possibilities for those diagnosed with Hao-Fountain Syndrome (mutation of USP7).
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