SBDS mutations
Patient . | Age at diagnosis, mo . | Hematologic abnormalities . | SBDS mutations . |
|---|---|---|---|
| DF250 | 4 | Neutropenia + anemia | IVS2 + 2 T>C, IVS3-1 G>A |
| DF259 | 24 | Neutropenia + anemia | IVS2 + 2 T>C, 183-184TA>CT(K62X) |
| DF260 | 6 | Neutropenia + anemia + thrombocytopenia + i7 clone | IVS2 + 2 T>C, 119delG |
| DF277 | 24 | Neutropenia | IVS2 + 2 T>C, IVS2 + 2 T>C |
| SD101 | 18 | Neutropenia | IVS2 + 2 T>C, 505C>T (R169C) |
| DF269 | 19 | Neutropenia | No mutations identified |
| DF307 | 8 | Neutropenia | IVS2 + 2 T>C, 183-184TA>CT (K62X) |
Patient . | Age at diagnosis, mo . | Hematologic abnormalities . | SBDS mutations . |
|---|---|---|---|
| DF250 | 4 | Neutropenia + anemia | IVS2 + 2 T>C, IVS3-1 G>A |
| DF259 | 24 | Neutropenia + anemia | IVS2 + 2 T>C, 183-184TA>CT(K62X) |
| DF260 | 6 | Neutropenia + anemia + thrombocytopenia + i7 clone | IVS2 + 2 T>C, 119delG |
| DF277 | 24 | Neutropenia | IVS2 + 2 T>C, IVS2 + 2 T>C |
| SD101 | 18 | Neutropenia | IVS2 + 2 T>C, 505C>T (R169C) |
| DF269 | 19 | Neutropenia | No mutations identified |
| DF307 | 8 | Neutropenia | IVS2 + 2 T>C, 183-184TA>CT (K62X) |