Family Resources

USP7 gene mutation
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.

Mutations are either point mutations or gene deletions. Mutations are diagnosed through either whole exome sequencing or chromosome microarray analysis. The inheritance pattern of the disease caused by USP7 mutations is autosomal dominant, which means that someone who receives a single copy of an abnormal USP7 gene from either parent may have this disorder.
Symptoms May Include
USP7 gene deletion
  • Developmental Delay/Intellectual Disability
  • Speech Impairment
  • Autism spectrum disorder
  • Neonatal hypotonia
  • Significant feeding problems
  • Hypogonadism
  • Eye abnormalities (strabismus, myopia, nystagmus, or other)
  • Reflux/Gerd
  • Abnormal brain MRI
  • Hypotonia
  • Contractures
  • Short stature
  • Difficulty gaining weight
  • Chronic constipation
  • Chronic diarrhea
  • Seizures
  • Abnormal gait 
  • Aggressive behavior
Meet Some of the USP7 Children
Downloadable Files
The files below contain useful information regarding the USP7 Gene that you can share with friends and family.  They are available in English, Spanish and French.
Family Brochure - English
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Family Brochure -
Español
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Fact Sheet English
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Fact Sheet
Español
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Family Brochure -
Français 
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Fact Sheet Français  
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Helpful Links
The following links will redirect you to websites with helpful information.
These links are being provided as a convenience and for informational purposes only; they do not constitute an endorsement or an approval by the Foundation of USP7-Related Diseases of any of the products, services or opinions of the corporation or organization or individual. The Foundation of USP7-Related Diseases bears no responsibility for the accuracy, legality or content of the external site or for that of subsequent links. Contact the external site for answers to questions regarding its content.