Table 3.
SON-Associated Clinical Features in Reported Subjects with Deletions Encompassing SON
| Subjects 1–7 | Izumi et al.26 | Fukai et al.27 | Beri-Dexheimer et al.28(Patient 2) | Hoyer et al.29 | Shinawi et al.30(Patient 2) | Thevenon et al.31 | Carrascosa-Romero et al.32 | Katzaki et al.33(Patient 2) | dbVar: nssv577822 | Subject 8 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Deletion (Mb) | NA | 1.9 | 1.4 | 3.3 | 3 | 1.81 | 2.97 | 2.84 | 2.9 | 0.341 | 0.825 |
| Developmental delay | + (7/7) | NR | + | + | + | + | + | + | + | + | + |
| IUGR and/or low birth weight | + (5/6) | + | − | + | NR | + | + | + | + | NR | NR |
| Short stature | + (5/7) | + | + | + | + | + | + | + | + | + | + |
| Respiratory problems | + (5/7) | + | NR | NR | NR | NR | NR | + | NR | NR | NR |
| Feeding problems | + (7/7) | + (G-tube) | NR | NR | NR | + (G-tube) | + | + (G-tube) | NR | NR | − |
| Seizures | + (2/6) | NR | + | − | − | − | + | − | + | + | + |
| Abnormal tone | + (5/6) | + | + | + | NR | NR | + | + | NR | NR | − |
| Brain anomalies | + (5/6) | + | + | + | NR | + | + | + | + | NR | − |
| Congenital malformations | + (5/5) | heart | heart | heart | − | NR | heart | renal | − | NR | heart |
Abbreviations are as follows: G-tube, gastrostomy tube; NA, not applicable; and NR, not reported.