Table 2.
Damaging de novo mutations in negative regulators of Wnt, BMP, and Ras/ERK signal transduction in 291 midline NSC probands
| Craniosynostosis type | Gene | Mutation | ExAC frequency | pLI |
| Metopic | ARAP3 | IVS6+1delGT | Novel | 0.97 |
| Sagittal | AXIN1 | E322G | Novel | 0.25 |
| Sagittal | DVL3 | G327fs | Novel | 1.00 |
| Sagittal | MESP1 | E104* | 8.92 × 10−5 | 0 |
| Sagittal | NPHP4 | E453K | 0.0002 | 0 |
| Metopic | PSMC2 | R297G | Novel | 1.00 |
| Metopic | PSMC5 | R317W | Novel | 0.97 |
| Sagittal | RASAL2 | R571P | Novel | 0.23 |
| Sagittal+Metopic | SMAD6 | Q78fs | Novel | 0 |
| Metopic | SMAD6 | G88fs | Novel | 0 |
| Sagittal | SMAD6 | E374* | Novel | 0 |
| Metopic | SMAD6 | G390C | Novel | 0 |
| Metopic | SMURF1 | R468W | Novel | 1.00 |
| Sagittal | SPRY1 | Q6fs | Novel | 0 |
| Sagittal | SPRY4 | E160* | Novel | 0.11 |
pLI, measure of intolerance to LOF mutation. Most intolerant score is 1.0