Table 1.
Comparison of clinical features in our patient and others previously reported with the PUF60 mutation
| Clinical phenotypes | Patient 1 | Previous reported with PUF60 variants (n = 24)[2, 4–9] |
Previous reported with 8q24.3 deletion (n = 7)[1, 2] |
|---|---|---|---|
| Gestation | |||
| Pre-term | + | 3/18 | NA |
| Full-term | 15/18 | 1/1 | |
| Height (z score < 2 SD) | + | 16/23 | 7/7 |
| Renal | – | 6/22 | 4/7 |
| Coloboma | – | 8/23 | 4/7 |
| Cardiac | – | 13/21 | 5/7 |
| Skeletal | – | 15/23 | 5/7 |
| Hand anomalies | – | 11/20 | 4/7 |
| Joint laxity | – | 11/19 | 5/7 |
| Feeding | + | 10/17 | 5/7 |
| ID (intellectual disability) | + | 24/24 | 5/6 |
| Auditory | – | 8/14 | 1/5 |
| Hypertrichosis | – | 5/12 | NA |
| Facial feature | |||
| Long philtrum | + | 16/23 | 7/7 |
| Thin upper lip | + | 15/23 | 7/7 |
| Micro-retrognathism | + | 13/22 | 4/7 |
| Short neck | + | 14/22 | 5/7 |
| Wide nasal bridge | + | 9/22 | 6/7 |