Table 3.
Patients grouped by mutational status
| Group | Mutation/substitution | Spontaneous phosphorylation | Percent of KIT sequenced | Primer pair(s) | Patients | Common features |
|---|---|---|---|---|---|---|
| 1a | 2468/V816D | Yes | 100% | All* | 1–3 | Sporadic progressive adult urticaria pigmentosa with systemic involvement |
| 1b | 2468/V816D | Yes | 100% 7% | All PQ | 4–9 10, 11 | Sporadic slowly progressive or persistent adult urticaria pigmentosa without systemic involvement |
| 1c | 2467/V816Y | Yes | 100% | All | 12, 13 | Extensive pediatric cutaneous disease with systemic involvement |
| 1d | 2467, 2468/V816F 2468/V816D | Yes Yes | 100% 7% | All PQ | 14 15 | Extensive or progressive pediatric cutaneous disease without systemic involvement |
| 2a | 2536/E839K | No, dominant loss of function | 100% 11% | All OP | 16 17, 18 | Sporadic pediatric urticaria pigmentosa (presumed transient) |
| 2b | None found | Unknown (partial sequence revealed only wild-type sequence) | 11% | OP | 19–22 | Sporadic pediatric urticaria pigmentosa (presumed transient) |
| 3 | None present | No (wild-type) | 100% | All | 23–25 | Familial persistent urticaria pigmentosa |
*
Complete sequencing of c-KIT coding regions used a combination of primers O and Q and/or P and Q in phosphotransferase region.