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.
Behavioral Characteristics
USP7 gene deletion
  • Speech Delay (some nonverbal)
  • Developmental Delay/Intellectual Disability
  • Behavioral Anomalies (aggressive behavior, temper tantrums, impulsivity, compulsivity, stubborness, manipulative behavior)
  • Autism Spectrum Disorder
  • ADHD
  • Skin Picking
Physical Characteristics
  • Dysmorphic Facial Features
  • Abnormal MRI
  • Hypotonia
  • Eye Anomalies (esotropia, myopia, strabismus, nystagmus)
  • Feeding Problems (including need for special feeding technique)
  • GERD
  • Seizures
  • Neonatal Hypotonia
  • Hypogonadism
  • Asthma
  • Abnormal Gait
  • Difficulty Gaining Weight
  • Sleep Apnea/Sleep Disturbance
  • Chronic Constipation
  • Short Stature
  • Scoliosis or Kyphosis
  • Neonatal Poor Suck
  • Contractures
  • Small Hands
  • Small Feet
  • Excessive Weight Gain
  • Chronic Diarrhea
  • Decreased Fetal Movement
  • Hip Dysplasia
  • Hearing Difficulties
It is important to note not all patients display all symptoms and characteristics.
Meet Some of the USP7 Warriors
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
Family Brochure -
Fact Sheet English
Fact Sheet
Family Brochure -
Fact Sheet Français  
Helpful Links
The following links will redirect you to websites with helpful information.
The Arc
Easter Seals
Autism Speaks
Epilepsy Foundation
Epilepsy and Sleep
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.