Table 1 Phenotypic features of the current patient and previously reported patients under 10 years and over 10 years of age with mutations in CUL4B
From: A novel CUL4B splice site variant in a young male exhibiting less pronounced features
Current case | |||
|---|---|---|---|
Number of patients | 1 | 7 | 22 |
Median age, year | 7 | 5 (2–8) | 28 (10–41) |
Growth | |||
Short stature | + | 2/7 (29%) | 21/22 (95%) |
Obesity | − | 1/6 (17%) | 10/16 (63%) |
Neurological | |||
Intellectual disability | + | 7/7 (100%) | 21/22 (95%) |
Motor delay | + | 4/4 (100%) | 17/18 (94%) |
Speech impairment | + | 6/7 (86%) | 23/24 (96%) |
Behavioral problems | + | 5/7 (71%) | 15/22 (68%) |
Tremor | − | 0/4 (0%) | 9/15 (60%) |
CNS abnormality | + | 4/4 (100%) | 7/9 (78%) |
Seizure | + | 3/3 (100%) | 2/5 (40%) |
Craniofacial | |||
Macrocephaly | + | 5/7 (71%) | 5/21 (24%) |
Malformed/abnormally positioned ears | + | 5/6 (83%) | 11/12 (92%) |
Narrow palpebral fissures | − | 4/6 (67%) | 11/14 (79%) |
Low nasal bridge/rounded tip | + | 6/6 (100%) | 7/14 (50%) |
Prominent lower lip | − | 4/6 (67%) | 13/17 (76%) |
Prognathia | + | 0/4 (0%) | 7/10 (70%) |
Extremities | |||
Hands/feet abnormality | + | 3/6 (50%) | 15/18 (83%) |
Other | |||
Gynecomastia | − | 0/4 (0%) | 5/12 (42%) |
Hypogonadism/genital abnormalities | − | 1/6 (17%) | 14/17 (82%) |
