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. Author manuscript; available in PMC: 2010 Oct 1.
Published in final edited form as: Nat Genet. 2010 Mar 14;42(4):338–342. doi: 10.1038/ng.542

Table 1. Characteristics of 38 primary T-ALL samples showing PHF6 inactivation.

PHF6 lesion

ID Sex Age WBC (×109/l) Immuno-phenotype Genetic subtype NOTCH1 Type of alteration Predicted protein Germline/somatic
PHF6 deletions

1 M Ped 77 Cortical TLX3 mut Deletion (0.55 Mb) NA
2 M Ped 46 Pre-T TLX3 wt Deletion (0.23 Mb) NA
3 M Ped 31 Pre-T TLX3 NA Deletion (1.50 Mb) NA
4 M Ped 2 Pre-T unknown NA Deletion (0.27 Mb) NA
5 M Ped NA Cortical HOXA NA Deletion (1.90 Mb) Somatic
6 M Ped NA Cortical unknown NA Deletion (0.20 Mb) Somatic
7 M Ped NA Cortical TLX1 NA Deletion (0.08 Mb) Somatic
8 M Adult NA Pre-T Unkn NA Deletion (0.11 Mb) NA

PHF6 mutations

9 M Ped 185 Cortical TLX3 wt Nonsense p.G122X NA
10 M Ped 417 Pre-T TLX3 mut Nonsense p.R116X NA
11 F Ped 280 Pre-T TLX1 mut Frameshift p.F172fs NA
12 M Ped 405 Pre-T TLX3 mut Frameshift p.Y303fs NA
13 M Ped 159 Pre-T TLX1 mut Nonsense p.K235X NA
14 M Ped 500 Pre-T TLX3 mut Frameshift p.A41fs NA
15 M Ped 347 Cortical HOXA mut Nonsense p.K274X NA
16 M Ped 129 Cortical unknown mut Frameshift p.D333fs NA
17 M Ped 174 Cortical TLX3 mut Nonsense p.R225X NA
18 M Ped 27 Cortical TLX1 wt Nonsense p.R116X NA
19 M Ped 310 Cortical TAL1 mut Missense p.C283R NA
20 M Ped 189 Cortical TAL1 mut Frameshift p.C28fs NA
21 M Adult 170 Cortical TLX3 wt Frameshift p.H44fs NA
22 M Adult 21 Cortical TLX1 mut Frameshift p.H43fs Somatic
22 M Adult 21 Cortical TLX1 mut Frameshift p.H43fs Somatic
23 M Adult NA Pre-T TLX3 mut Frameshift p.T98fs Somatic
24 M Adult 14 Pre-T TLX3 wt Frameshift p.Y105fs NA
25 M Adult 28 Mature TLX3 wt Frameshift p.S158fs NA
26 M Adult NA Cortical TLX3 mut Missense p.C215Y NA
27 M Adult NA Pre-T Unkn mut Missense p.C215F NA
28 M Adult 31 Cortical Unkn mut Missense p.C215Y NA
29 M Adult NA Mature TLX3 mut Missense p.T300A Somatic
30 M Adult 21 Cortical TLX1 wt Missense p.A311P NA
31 M Adult 30 Mature Unkn wt Missense p.C280Y NA
32 M Adult 23 Cortical Unkn wt Missense p.H329R Somatic
33 M Ped NA NA TAL1 NA Nonsense p.R257X Somatic
34 M Ped NA NA TLX1 NA Frameshift p.S191fs Somatic
35 M Adult NA NA TLX1 NA Missense p.C215F Somatic
36 M Adult NA NA TLX1 NA Nonsense p.Y303X NA
37 M Adult NA NA Unkn NA Nonsense p.R274X NA
38 M Adult NA NA Unkn NA Frameshift p.H135fs NA

Ped, pediatric; NA, not available; mut, mutated; wt, wild-type.