Table 5.

c-KIT mutation among patients with childhood-onset cutaneous mastocytosis

c- KIT (Transcript/Exon)	cDNA	Amino Acid	Type of CM	Age at onset	Systemic symptoms	Organomegaly	Mast cell tryptase level ng/ml	Bone marrow biopsy
NM_000222.3 (KIT_v001)/Exon 8	c. 1250_1256delCTTACGAinsT (deletion-insertion resulting in an in-frame mutation)/Novel	p.(Thr417_Asp419delinsIle)	MPCM	2 days of birth	Nil	Absent	10.9	Not done
NM_000222.3 (KIT_v001)/Exon 8	c. 1255_1257delGAC (in-frame deletion)	p.(Asp419del)	DCM	3 months	Nil	Absent	Not done	Not done
NM_000222.3 (KIT_v001)/Exon 17	c. 2447A>T (missense mutation)	p.(Asp816Val)	MPCM	3 months	Nil	Absent	24	Not done