Table 1.
Summary of clinical and molecular data for 37 Chinese families with LHON
| Pedigree | Ratio (affected male/ female) | Average age-at-onset (years) | Matrilineal relatives (affected) | Penetrancea (%) | m.14502T>C mutation | m.11778A>G mutation | Additional mutations | mtDNA haplogroup |
|---|---|---|---|---|---|---|---|---|
| WZ421 | 0:1 | 15 | 15(1) | 6.67 | Yes | No | m.7419G>A | M10a |
| WZ422 | 1:0 | 12 | 22(1) | 4.55 | Yes | No | M10a | |
| WZ423 | 0:1 | 9 | 9(1) | 11.1 | Yes | No | M10a | |
| WZ424 | 1:0 | 14 | 10(1) | 10 | Yes | No | M10a | |
| WZ425 | 0:1 | 11 | 20(1) | 5 | Yes | No | M10a | |
| WZ426 | 1:0 | 6 | 26(1) | 3.85 | Yes | No | m.4812G>A | M10a |
| WZ427 | 0:1 | 7 | 14(1) | 7.1 | Yes | No | M10a | |
| WZ402b | 1:0 | 2 | 6(1) | 16.7 | Yes | No | m.6828C>T | F1a |
| WZ403b | 0:1 | 30 | 16(1) | 6.3 | Yes | No | m.8296A>C | H2 |
| WZ428 | 1:0 | 16 | 6(1) | 16.7 | Yes | Yes | M10a | |
| WZ429 | 1:1 | 18 | 13(2) | 15.4 | Yes | Yes | M10a | |
| WZ430 | 1:2 | 13 | 17(6) | 35.3 | Yes | Yes | M10 | |
| WZ431 | 2:0 | 20 | 9(2) | 22.2 | Yes | Yes | H2 | |
| WZ432 | 1:0 | 14 | 10(1) | 10 | Yes | Yes | M10a | |
| WZ433 | 3:1 | 30 | 7(4) | 57.1 | Yes | Yes |
|
M10a |
| WZ434 | 1:0 | 35 | 15(1) | 6.7 | Yes | Yes | M10a | |
| WZ435 | 5:1 | 18 | 24(6) | 25 | Yes | Yes | M10a | |
| WZ436 | 1:0 | 19 | 11(1) | 9.1 | Yes | Yes | H2 | |
| WZ437 | 3:1 | 20 | 9(4) | 44.4 | Yes | Yes | M10a | |
| WZ438 | 2:1 | 15 | 10(3) | 30 | Yes | Yes |
|
M10a |
| WZ439 | 1:0 | 32 | 4(1) | 25 | Yes | Yes | M10a | |
| WZ440 | 1:3 | 20 | 10(4) | 40 | Yes | Yes | B4a | |
| WZ441 | 3:1 | 18 | 8(4) | 50 | Yes | Yes | M10a | |
| WZ442 | 1:2 | 22 | 4(3) | 75 | Yes | Yes | m.644A>G | M10a |
| WZ443 | 4:5 | 24 | 16(9) | 56.3 | Yes | Yes | M10a | |
| WZ444 | 4:6 | 15 | 15(10) | 66.7 | Yes | Yes | m.11204T>C | M10a |
| WZ50c | 0:4 | 17 | 12(4) | 33.3 | Yes | Yes | M10a | |
| WZ404d | 1:1 | 20 | 14(8) | 57.1 | Yes | Yes | m.3866T>C | M10a |
| WZ405d | 3:1 | 23 | 34(12) | 35.3 | Yes | Yes | M10a | |
| WZ406d | 1:3 | 25 | 15(4) | 26.7 | Yes | Yes |
|
M7c2 |
| WZ407d | 4:3 | 21 | 20(7) | 35 | Yes | Yes | M10a | |
| WZ111 | 1:1 | 27 | 17(2) | 11.8 | No | Yes | D5a | |
| WZ112 | 1:1 | 21 | 10(2) | 20 | No | Yes | D5b1 | |
| WZ113 | 0:3 | 16 | 12(3) | 25 | No | Yes | B5a | |
| WZ114 | 3:0 | 17 | 20(3) | 15 | No | Yes | m.1095T>C | M11 |
| WZ115 | 4:0 | 20 | 19(4) | 21.1 | No | Yes | D5a'b | |
| WZ116 | 1:1 | 21 | 12(2) | 16.7 | No | Yes | A |