Patient and mutation information
| Age (years) | NIPBL mutationa | Doubling timeb | NIPBL RNA/Protein % of control | γ-IRc | Increased microhomology | |
| P1 | 3 | c.2494C>T; p.Arg832X | 46 h | 75/50 | 1 Gy**** 3 Gy**** 9 Gy*** | YES |
| P2 | 13 | c.4320+2T>A; p.Val1441_Lys1520del | 75 h | 60/50 | 1 Gy**** 3 Gy*** 9 Gy** | YES |
| P3 | 17 | c.6250_6255del; p.Val2084_Val2085del | 44 h | 90/60 | 1 Gy** 3 Gy* 9 Gy n.s. | YES |
| P4 | 14 | ND | 50 h | 60/50 | 1 Gy**** 3 Gy**** 9 Gy n.s. | NA |
| P5 | 13 | c.7306G>A; p.Ala2436Thr | 42 h | 150/70 | 1 Gy* 3 Gy*** 9 Gy n.s. | NA |
| P6 | 2 | c.4593T>A; p.Tyr1531X | 42 h | NA | NA | YES |
| P7 | 1 | c.6436A>C; p.Thr2146Pro | NA | NA/50 | 1 Gy* 3 Gy* 9 Gy n.s. | YES Plasmid |
| P8 | 4 | c.4321G>T; p.Val1441Leu | NA | NA | NA | YES |
| P9 | 1 | c.4320+5G>C; p.Val1414_Ala1440del | NA | NA | NA | YES |
| P10 | 10 | c.6242G>C; p.Gly2081Ala | NA | NA/40 | 1 Gy* 3 Gy n.s. 9 Gy n.s. | YES Plasmid |
| Age (years) | NIPBL mutationa | Doubling timeb | NIPBL RNA/Protein % of control | γ-IRc | Increased microhomology | |
| P1 | 3 | c.2494C>T; p.Arg832X | 46 h | 75/50 | 1 Gy**** 3 Gy**** 9 Gy*** | YES |
| P2 | 13 | c.4320+2T>A; p.Val1441_Lys1520del | 75 h | 60/50 | 1 Gy**** 3 Gy*** 9 Gy** | YES |
| P3 | 17 | c.6250_6255del; p.Val2084_Val2085del | 44 h | 90/60 | 1 Gy** 3 Gy* 9 Gy n.s. | YES |
| P4 | 14 | ND | 50 h | 60/50 | 1 Gy**** 3 Gy**** 9 Gy n.s. | NA |
| P5 | 13 | c.7306G>A; p.Ala2436Thr | 42 h | 150/70 | 1 Gy* 3 Gy*** 9 Gy n.s. | NA |
| P6 | 2 | c.4593T>A; p.Tyr1531X | 42 h | NA | NA | YES |
| P7 | 1 | c.6436A>C; p.Thr2146Pro | NA | NA/50 | 1 Gy* 3 Gy* 9 Gy n.s. | YES Plasmid |
| P8 | 4 | c.4321G>T; p.Val1441Leu | NA | NA | NA | YES |
| P9 | 1 | c.4320+5G>C; p.Val1414_Ala1440del | NA | NA | NA | YES |
| P10 | 10 | c.6242G>C; p.Gly2081Ala | NA | NA/40 | 1 Gy* 3 Gy n.s. 9 Gy n.s. | YES Plasmid |
All mutations described are de novo. ND, not detected.
Doubling times for control cell lines (LCL1-3) were between 23 to 32 h. NA, not analyzed.
Statistical comparison of γ-IR sensitivity was performed between P1-P5 and LCL2 and between P7 and P10 and control FB, *, P < 0.05, **, P < 0.01, ***, P < 0.005, ****, P < 0.001 (Student’s t test). n.s., not significant.