Table 1.
Summary of published and novel patients with pathogenic variants of USP7
| Number of patients | Summary deletion | Summary nonsense | Summary missense | Summary splice site | Summary total |
|---|---|---|---|---|---|
| (n = 8) | (n = 4) | (n = 8) | (n = 3) | (n = 23) (%) | |
| Sex | 5 M, 3 F | 1 M, 3 F | 2 M, 6 F | 3 M | 11 M, 12 F |
| Behavioral characteristics | |||||
| Speech delay | 8/8 | 4/4 | 8/8 | 3/3 | 23/23 (100%) |
| DD/ID | 8/8 | 4/4 | 7/8 | 3/3 | 22/23 (96%) |
| Behavioral anomaliesa (aggressive behavior, temper tantrums, impulsivity, compulsivity, stubbornness, manipulative behavior) | 7/8 | 1/3 | 2/7 | 2/3 | 12/21 (57%) |
| Autism spectrum disordera | 7/7 | 0/3 | 2/4 | 0/3 | 9/17 (53%) |
| ADHDa | 3/7 | 0/2 | 1/4 | 2/3 | 6/16 (38%) |
| Nonverbal | 1/8 | 0/3 | 3/8 | 0/3 | 4/22 (18%) |
| Skin picking | 2/8 | 0/4 | 1/5 | 0/3 | 3/20 (15%) |
| Physical characteristics | |||||
| Dysmorphic facial features | 4/6 | 4/4 | 7/7 | 3/3 | 18/20 (90%) |
| Abnormal MRI | 3/4 | 1/3 | 7/7 | 0/1 | 11/15 (73%) |
| Hypotonia (at exam)a | 4/7 | 4/4 | 5/7 | 1/3 | 14/21 (67%) |
| Eye anomalies (esotropia, myopia, strabismus, nystagmus) | 6/8 | 4/4 | 4/8 | 1/3 | 15/23 (65%) |
| Feeding problems, need for special feeding technique | 4/7 | 2/4 | 4/8 | 2/3 | 12/22 (55%) |
| GERD | 3/5 | 1/2 | 4/6 | 0/3 | 8/16 (50%) |
| Seizures | 4/8 | 2/4 | 3/7 | 1/3 | 10/22 (45%) |
| Neonatal hypotonia | 1/6 | 4/4 | 4/7 | 0/3 | 9/20 (45%) |
| Hypogonadism (including cryptorchidism/micropenis)a | 5/7 4 M, 1 F | 0/2 | 2/4 1 M, 1 F | 0/3 | 7/16 (44%) |
| Asthmaa | 1/4 | 2/3 | 1/4 | 2/3 | 6/14 (43%) |
| Abnormal gait | 2/5 | 0/2 | 4/4 | 0/3 | 6/14 (43%) |
| Difficulty gaining weight | 1/6 | 1/3 | 5/7 | 0/3 | 7/19 (37%) |
| Sleep apnea/sleep disturbance | 3/7 | 1/3 | 1/7 | 2/3 | 7/20 (35%) |
| Chronic constipation | 3/5 | 1/2 | 1/6 | 0/3 | 5/16 (31%) |
| Short stature | 2/7 | 1/4 | 3/6 | 0/3 | 6/20 (30%) |
| Scoliosis or kyphosis | 2/6 | 0/4 | 1/8 | 3/3 | 6/21 (29%) |
| Neonatal poor suck | 2/6 | 1/4 | 1/4 | 0/3 | 4/17 (24%) |
| Contractures | 2/6 | 2/4 | 0/4 | 0/3 | 4/17 (24%) |
| Small hands | 2/6 | 2/4 | 0/5 | 0/3 | 4/18 (22%) |
| Small feet | 1/6 | 2/4 | 1/6 | 0/3 | 4/19 (21%) |
| Excessive weight gain | 0/6 | 0/4 | 0/6 | 3/3 | 3/19 (16%) |
| Chronic diarrhea | 0/4 | 0/2 | 2/5 | 0/3 | 2/14 (14%) |
| Decreased fetal movement | 0/6 | 1/3 | 1/3 | 0/3 | 2/15 (13%) |
| Hip dysplasia | 0/6 | 0/4 | 2/8 | 0/3 | 2/21 (10%) |
| Hearing difficulties | 1/7 | 1/4 | 0/8 | 0/3 | 2/22 (9%) |
ADHD attention-deficit hyperactivity disorder, DD/ID developmental delay/intellectual disability, F female, GERD gastroesophageal reflux disease, M male, MRI magnetic resonance image.aSome individuals exhibited signs or indications of this phenotype without formal diagnosis or full manifestation.