Table 3 Comparisons of NF1 mutation spectra between Chinese and patients from other parts of the world
Chinese patients (n = 14) | Korean patients (n = 52) | Italian patients (n = 73) | p1 | p2 | |
|---|---|---|---|---|---|
Novelty | 0.395 | 0.591 | |||
Reported | 8(57.1) | 36(69.2) | 36(49.3) | ||
Novel | 6(42.8) | 16(30.8) | 37(50.7) | ||
Single-base mutation | 6(42.9) | 30(57.7) | 49(67.1) | 0.322 | 0.085 |
Nonsense | 3(21.4) | 10(19.2) | 6(8.2) | 0.854 | 0.137 |
Missense | 3(21.4) | 20(38.5) | 43(58.9) | 0.235 | 0.010* |
Splicing mutation | 4(28.6) | 8(15.4) | 18(24.7) | 0.256 | 0.758 |
Intron | 1(7.14) | / | / | NA | NA |
Frameshift deletion | 3(21.4) | 8(15.4) | 18(24.7) | 0.590 | 0.796 |
Insertion | 0(0) | 3(5.8) | 1(1.4) | 0.358 | 0.660 |