Table 1 Clinical features and genotype... | American Society of Hematology

Table 1

Clinical features and genotype of newly identified patients with HAX1 mutations

Patient no.	Ethnic background	Age at diagnosis, y	ANC without G-CSF treatment, × 10⁹/L	Neurologic symptoms	Clinical course and outcome	HAX1 mutation (gDNA; AL354980)		cDNA (transcript variant 1)		Protein (isoform a)	Effect on isoform b
1	Turkish	0.7	< 0.1	None	24 y, alive	g.44315delA		c.180delA		p.Glu60AspfsX25	No
2	Turkish	0.8	0-0.5	Mental and psychomotor retardation, seizures	MDS, allo-BMT at age 7, 13 years, alive	g.44740	44741insG	c.430	431insG	p.Val144GlyfsX5	Yes
3	Turkish	0.4	0-0.1	Seizures	ALL, death at 8 mo	g.44678	44691del	c.368	381del	p.Gln123LeufsX4	Yes
4	Iranian	3.5	0.1-0.5	None	12 y, alive	g.44308	44309insC	c.174	175insC	p.Glu59X	No
5	Turkish	0.1	< 0.2	None	1 y, alive	g.44265	44266insA	c.130	131insA	p.Trp44X	No
6	Turkish	0.3	0-0.1	None	18 y, alive	g.44265	44266insA	c.130	131insA	p.Trp44X	No

Patient no.	Ethnic background	Age at diagnosis, y	ANC without G-CSF treatment, × 10⁹/L	Neurologic symptoms	Clinical course and outcome	HAX1 mutation (gDNA; AL354980)		cDNA (transcript variant 1)		Protein (isoform a)	Effect on isoform b
1	Turkish	0.7	< 0.1	None	24 y, alive	g.44315delA		c.180delA		p.Glu60AspfsX25	No
2	Turkish	0.8	0-0.5	Mental and psychomotor retardation, seizures	MDS, allo-BMT at age 7, 13 years, alive	g.44740	44741insG	c.430	431insG	p.Val144GlyfsX5	Yes
3	Turkish	0.4	0-0.1	Seizures	ALL, death at 8 mo	g.44678	44691del	c.368	381del	p.Gln123LeufsX4	Yes
4	Iranian	3.5	0.1-0.5	None	12 y, alive	g.44308	44309insC	c.174	175insC	p.Glu59X	No
5	Turkish	0.1	< 0.2	None	1 y, alive	g.44265	44266insA	c.130	131insA	p.Trp44X	No
6	Turkish	0.3	0-0.1	None	18 y, alive	g.44265	44266insA	c.130	131insA	p.Trp44X	No

Allo-BMT indicates allogeneic bone marrow transplantation.