Cranial suture involvement in patients recruited for exome sequence/whole genome sequence
| Non-syndromic | Syndromic | Combined | ||||
|---|---|---|---|---|---|---|
| Total | Mutation positive | Total | Mutation positive | Total | Mutation positive | |
| Clinical genetic cases | ||||||
| Metopic | 0 | 0 | 2 | 2 | 2 | 2 |
| Sagittal | 0 | 0 | 0 | 0 | 0 | 0 |
| Unicoronal | 0 | 0 | 1 | 0 | 1 | 0 |
| Bicoronal | 2 | 0 | 2 | 2 | 4 | 2 |
| Multisuture | 3 | 1 | 12 | 5* | 15 | 6 |
| Total | 5 | 1 | 17 | 9 | 22 | 10 |
| Molecular genetic cases | ||||||
| Metopic | 0 | 0 | 0 | 0 | 0 | 0 |
| Sagittal | 0 | 0 | 2 | 0 | 2 | 0 |
| Unicoronal | 5 | 1 | 1 | 1 | 6 | 2 |
| Bicoronal | 2 | 0 | 2 | 1* | 4 | 1 |
| Multisuture | 1 | 0 | 5 | 2 | 6 | 2 |
| Total | 8 | 1 | 10 | 4 | 18 | 5 |
*Includes likely novel disease gene, still undergoing validation.