Clinical signs in patients with IMO with different TCIRG1 mutation styles (the frameshift mutation group and the point mutation group)
| Group (cases/yes) | Mean age at onset (month)* | Poor gaze qualities† | Optic atrophy† | Optic canal diameter (mm)‡ | Flat FVEP† |
| Group F (12/24) | 1.8 (0–6) | 22 | 16 | 1.45±0.36 | 10 |
| Group P (15/30) | 4.3 (0–17) | 16 | 6 | 1.87±0.73 | 5 |
| P values | 0.028 | 0.002 | 0.001 | 0.009 | 0.042 |
*Mann-Whitney U test; p<0.01.
†Pearson χ2; p<0.01.
‡Student’s t-test; p<0.01.
FVEP, Flash visual-evoked potential; IMO, infantile malignant osteopetrosis; TCIRG1, T-cell immune regulator 1.