Acknowledgement of USP7 has not been added yet.

As of January 2020, there are 62 cases worldwide.

Synonyms for USP7 has not been added yet.

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

• Speech Delay (some nonverbal)
• Developmental Delay/Intellectual Disability
• Behavioral Anomalies (aggressive behavior, temper tantrums, impulsivity, compulsivity, stubbornness, 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.

Name	Description
Difficulty Walking	Difficulty Walking
Visual Defects	Visual Defects
Difficulty in Articulating Words	Difficulty in Articulating Words
Behavioral Changes	Behavioral Changes
Seizures	Seizures
Mental retardation	Mental retardation
Constipation	Constipation
Muscular weakness	Muscular weakness
Sleep disturbances	Sleep disturbances
Abnormal Brain MRI Scans	Abnormal Brain MRI Scans

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.

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

Physician Resources

• USP7 Publication 2015
• USP7 Publication 2019

Those diagnosed with USP7 would benefit from early interventions, especially speech therapy, occupational therapy, and physical therapy.

Prognosis of USP7 has not been added yet.

Tips or Suggestions of USP7 has not been added yet.

Visit www.usp7.org or Facebook for more information.