Table 1. VAFs of SMAD3 mutations.
| Patient | Mutation | Whole exome | Amplicon | ddPCR | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Aff. bone | Unaff. bone | Aff. bone | Unaff. bone | Aff. bone | Unaff. bone | Skin overlying aff. bone | Skin overlying unaff. bone | Blood | ||
| Melo-8 | S264Y | ND | 0% | - | - | 2.30% | 0% | 0.29% | 0% | 0% |
| Melo-11 | S264Y | ND | 0% | 1.60% | 0% | 1.70% | 0% | 0.15% | 0% | 0% |
| Melo-12a | S264Y | 24% | 0% | - | - | 13.70% | 0% | 1.30% | 0% | 0% |
| Melo-17 | S264F | ND | 0% | 7.00% | 0% | 8.20% | 0% | 1.50% | 0% | 0% |
Amplicon sequencing identified two cases (Melo-11 and Melo-17). All mutations were confirmed by ddPCR and were seen in affected bone and overlying skin. Aff., affected; ND, not detectable; Unaff., unaffected.
a
Patient Melo-12 was identified by whole exome sequencing.