Physician Resources
USP7 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.
Suggested Tests
Behavioral Characteristics
Once diagnosed, there are certain tests that are recommended for each patient. These tests include:

  1. Measurement of IGF-1 and IGF-BP3 to screen for growth hormone deficiency
  2. A brain MRI after 40 months of age to assess for abnormalities of white matter
  3. Full assessment by a speech pathologist
  4. Full assessment for physical and occupational therapy
  5. Formal cognitive and behavioral testing by a licensed pediatric psychiatrist 
  6. A sleep apnea test/sleep study
  7. An EEG test to test for abnormal electric activity that could cause/predispose seizures
  8. A consultation with a gastroenterologist for any reflux, vomiting, or chronic constipation/diarrhea issues
  9.  An assessment by a pediatric ophthalmologist
  • 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.
Dr. Schaaf
Schaaf Lab Portal
USP7 Acts as a Molecular Rheostat...
Pathogenic Variants
in USP7...
Downloadable Files

The files below contain useful information regarding the USP7 Gene.  The Physician Brochures are available in both English and Spanish.