Table 1.
Summary of clinical data in patients with CUL4B variants
| Cabezas et al (2000) 5 | Zou et al (2007) 4 | Tarpey et al (2007) 6 | Badura‐Stronka et al (2010) 7 | Isidor et al (2010) 8 | Ravn et al (2012) 9 | Londin et al (2014) 10 | Vulto‐van Silfhout et al (2015) 11 | Okamoto et al (2017) 3 | Weissbachet al (2017) 14 | This case | Total | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. Affected | 5 | 6 | 8 families | 3 | 1 | 2 | 8 | 29 | 1 | 1 | |||
| Neurological | |||||||||||||
| Intellectual disability | 5/5 | 6/6 | 22/22 | 3/3 | 1/1 | 2/2 | 8/8 | 24/24 | 1/1 | 0/1 | + | 73/74 | 98.65% |
| Motor delay | 5/5 | 6/6 | 5/5 | na | 1/1 | 2/2 | 8/8 | 23/23 | 1/1 | 0/1 | + | 52/53 | 98.11% |
| Language/speech delay | 4/5 | 6/6 | 18/18 | 3/3 | 1/1 | 2/2 | 8/8 | 23/23 | 1/1 | 0/1 | + | 67/69 | 97.10% |
| Seizures | na | 4/5 | 8/11 | 0/3 | 0/1 | 2/2 | 1/8 | 7/22 | 1/1 | 0/1 | + | 24/55 | 43.64% |
| Tremors | 4/5 | 1/5 | 11/13 | 2/3 | 1/1 | 2/2 | na | 9/20 | 0/1 | 0/1 | − | 30/52 | 57.69% |
| Gait disturbances | 3/5 | 6/6 | 6/12 | na | 1/1 | 2/2 | 0/8 | 10/21 | 0/1 | 1/1 | + | 31/58 | 53.44% |
| Behavioral problems | 3/5 | 5/6 | 12/15 | 3/3 | 1/1 | 1/2 | na | 13/22 | 0/1 | na | + | 39/56 | 69.64% |
| Dysmorphims | |||||||||||||
| Microcephaly | 0/5 | 6/6 | – | 1/3 | 1/1 | – | 3/8 | – | – | na | − | 11/60 | 18.33% |
| Macrocephaly | 0/5 | – | 8/11 | – | – | 2/2 | – | 7/22 | 1/1 | na | − | 18/60 | 30.00% |
| Prominent lower lip | 4/5 | 5/5 | 6/17 | 2/3 | 1/1 | 2/2 | na | 18/23 | 1/1 | na | + | 40/58 | 68.96% |
| Low set ears | 0/5 | 0/6 | na | 3/3 | 1/1 | na | 8/8 | 17/19 | 1/1 | na | + | 31/44 | 70.45% |
| Muscle/Skeletal | |||||||||||||
| Short stature | 5/5 | 6/6 | 7/11 | 2/3 | 1/1 | 2/2 | 8/8 | 17/22 | 1/1 | 0/1 | + | 50/61 | 81.97% |
| Short feet | 5/5 | na | 7/14 | 3/3 | na | na | 8/8 | 14/19 | na | na | + | 38/50 | 76.00% |
| Gap between 1&2 toes | 3/5 | na | 11/13 | 3/3 | 1/1 | na | 8/8 | na | na | na | − | 26/31 | 83.87% |
| Pes cavus | na | 0/5 | 7/8 | 0/3 | 1/1 | 2/2 | na | 2/11 | na | na | − | 12/31 | 38.71% |
| Kyphosis | 4/5 | na | 3/18 | na | 1/1 | na | 6/8 | 6/17 | na | 0/1 | + | 21/51 | 41.18% |
| Muscle wasting | 5/5 | na | 7/12 | 1/3 | na | na | na | 5/11 | na | 0/1 | + | 19/33 | 57.57% |
| Other | |||||||||||||
| Genital abnormalities | 4/5 | 2/5 | 10/15 | 1/3 | 1/1 | 0/2 | 8/8 | 17/20 | 1/1 | 0/1 | + | 45/62 | 72.58% |
| Obesity | 4/5 | 0/5 | 15/19 | 2/3 | 0/1 | 2/2 | 0/8 | 11/21 | 0/1 | 0/1 | − | 34/67 | 50.75% |