This website provides information on patients with mutations in the USP7 gene, including clinical data, molecular data, management and research options.
Hao-Fountain Syndrome (HAFOUS), previously known as USP7-related syndrome, is an extremely rare disorder caused by mutations in the USP7 gene, either point mutations or gene deletions. Up to date, it has been described in approximately 70 individuals worldwide; however, the incidence and prevalence of the disorder is unknown.
HAFOUS is mainly characterized by developmental delay/intellectual disability, autism spectrum disorder, increased prevalence of epilepsy, abnormal brain MRI, and speech/motor impairments, with some patients being completely non-verbal. Among other clinical features, individuals with USP7 mutations also show an increased prevalence of neonatal hypotonia, feeding problems, joint contractures and hypogonadism.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the USP7 gene.
Christian Schaaf, MD, PhD, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany, firstname.lastname@example.org
Pilar Caro, PhD, Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany, MariadelPilar.CaroMartin@med.uni-heidelberg.de