Table 3

Patients grouped by mutational status

GroupMutation/substitutionSpontaneous phosphorylationPercent of KIT sequencedPrimer pair(s)PatientsCommon features
1a2468/V816DYes100%All*1–3Sporadic progressive adult urticaria pigmentosa with systemic involvement
1b2468/V816DYes100% 7%All PQ4–9 10, 11Sporadic slowly progressive or persistent adult urticaria pigmentosa without systemic involvement
1c2467/V816YYes100%All12, 13Extensive pediatric cutaneous disease with systemic involvement
1d2467, 2468/V816F 2468/V816DYes Yes100% 7%All PQ14 15Extensive or progressive pediatric cutaneous disease without systemic involvement
2a2536/E839KNo, dominant loss of function100% 11%All OP16 17, 18Sporadic pediatric urticaria pigmentosa (presumed transient)
2bNone foundUnknown (partial sequence revealed only wild-type sequence)11%OP19–22Sporadic pediatric urticaria pigmentosa (presumed transient)
3None presentNo (wild-type)100%All23–25Familial 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.