Table 2. Analysis of mutations in exon 2... | American Society of Hematology

Table 2.

Analysis of mutations in exon 2 of GATA1 in congenital transient myeloproliferative disorder of DS patients

					Exon 2 mutation (according to NM_002049)
Patient	Sex	Age at diagnosis, d	DNA source (blasts in PB/BM, %)	Karyotype	RNA	Last normal GATA-1 amino acid	Consequence of mutation on protein	Clinical status at last follow-up (time since diagnosis, mo)
11A	M	14	BM(30)	Not determined	202delAG	Gly31	Stop codon before Met84	AMKL at 10 mo^*
29	F	3	PB(18)	47,XX,der(13), t(13;21), +21c	331A>G	Pro73	Splice mutant	CCR (28)
31	M	6	PB(70)	Not determined	202delAG	Gly31	Stop codon before Met84	CCR (3)
35	F	4	PB(28)	48,XX, +18, +21c[18]	252del35	Ser46	Stop codon before Met84	CCR (99)
36	F	1	PB(85)	47,XX, +21c[24]	149G>T	Ser12	Stop codon before Met84	DOD (1)
37	M	2	PB(50)	47,XY,21c[43]/47,idem,del(11)(q23)[6]	299dup278-299	Tyr61	Stop codon before Met84	CCR (91)
39	F	13	PB(77)	47,XX,der(11)(q2?3), +21c/47,XX, +21c	321delGA	Tyr69	Stop codon after Met84	CCR (76)
40	M	2	BM(16)	Not determined	217insC	Pro35	Stop codon before Met84	CCR (75)
44	M	6	BM(14)	47,XY,1qh⁺,der(9)(p22), +21c	292insT	Leu60	Stop codon before Met84	AMKL at 1 y CCR (14)
51	F	6	BM(18)	47,XX, +21c[20]	202delAG	Gly31	Stop codon before Met84	CCR (31)
56	M	1	BM(8)	Not determined	305ins5	Arg64	Stop codon after Met84	CCR (3)
57	F	9	PB(65)	47,XX, +21c[20]	332G>A	Pro73	Splice mutant	CCR (12)
59	M	17	Not determined	47,XY, +21c[20]	Normal			CCR (7)
60	M	1	PB(13)	Not determined	304delG,ins3	Arg64	Stop codon before Met84	CCR (1)
61	F	14	PB(38)	47,XX,9qh⁺, +21c[20]	332del10	Pro73	Splice mutant	Lost to follow-up
62A	M	8	BM(13)	47,XY, +21c[27]	298dup289-298	Tyr62	Stop codon before Met84	AMKL at 22 mo^† DOD (4)
63	M	2	PB(20)	47,XY, +21c[20]	145dup130-145	Thr11	Stop codon before Met84	CCR (49)

					Exon 2 mutation (according to NM_002049)
Patient	Sex	Age at diagnosis, d	DNA source (blasts in PB/BM, %)	Karyotype	RNA	Last normal GATA-1 amino acid	Consequence of mutation on protein	Clinical status at last follow-up (time since diagnosis, mo)
11A	M	14	BM(30)	Not determined	202delAG	Gly31	Stop codon before Met84	AMKL at 10 mo^*
29	F	3	PB(18)	47,XX,der(13), t(13;21), +21c	331A>G	Pro73	Splice mutant	CCR (28)
31	M	6	PB(70)	Not determined	202delAG	Gly31	Stop codon before Met84	CCR (3)
35	F	4	PB(28)	48,XX, +18, +21c[18]	252del35	Ser46	Stop codon before Met84	CCR (99)
36	F	1	PB(85)	47,XX, +21c[24]	149G>T	Ser12	Stop codon before Met84	DOD (1)
37	M	2	PB(50)	47,XY,21c[43]/47,idem,del(11)(q23)[6]	299dup278-299	Tyr61	Stop codon before Met84	CCR (91)
39	F	13	PB(77)	47,XX,der(11)(q2?3), +21c/47,XX, +21c	321delGA	Tyr69	Stop codon after Met84	CCR (76)
40	M	2	BM(16)	Not determined	217insC	Pro35	Stop codon before Met84	CCR (75)
44	M	6	BM(14)	47,XY,1qh⁺,der(9)(p22), +21c	292insT	Leu60	Stop codon before Met84	AMKL at 1 y CCR (14)
51	F	6	BM(18)	47,XX, +21c[20]	202delAG	Gly31	Stop codon before Met84	CCR (31)
56	M	1	BM(8)	Not determined	305ins5	Arg64	Stop codon after Met84	CCR (3)
57	F	9	PB(65)	47,XX, +21c[20]	332G>A	Pro73	Splice mutant	CCR (12)
59	M	17	Not determined	47,XY, +21c[20]	Normal			CCR (7)
60	M	1	PB(13)	Not determined	304delG,ins3	Arg64	Stop codon before Met84	CCR (1)
61	F	14	PB(38)	47,XX,9qh⁺, +21c[20]	332del10	Pro73	Splice mutant	Lost to follow-up
62A	M	8	BM(13)	47,XY, +21c[27]	298dup289-298	Tyr62	Stop codon before Met84	AMKL at 22 mo^† DOD (4)
63	M	2	PB(20)	47,XY, +21c[20]	145dup130-145	Thr11	Stop codon before Met84	CCR (49)

PB indicates peripheral blood; BM, bone marrow; CCR, complete clinical remission; and DOD, dead of disease

This patient is shown as patient 11B in Table 1

This patient is shown as patient 62B in Table 1