Table 2 Genotypes of the index patients (n = 1302)
From: Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Genotype | Index patients | Hepatic | Neurologic | Asymptomatic | Others |
|---|---|---|---|---|---|
Total | 1302 (100%) | 307 (100%) | 737 (100%) | 238 (100%) | 20 (100%) |
Homozygotes | 204 (15.67) | 44 (14.33) | 121 (16.42) | 37 (15.55) | 2 (10.00) |
R778L/R778L | 125 (9.60) | 24 (7.82) | 74 (10.04) | 26 (10.92) | 1 (5.00) |
P992L/P992L | 39 (3.00) | 7 (2.28) | 27 (3.66) | 4 (1.68) | 1 (5.00) |
A874V/A874V | 6 (0.46) | 2 (0.65) | 2 (0.27) | 2 (0.84) | 0 |
PTV/PTV | 10 (0.77) | 1 (0.33) | 9 (1.22) | 0 | 0 |
Others | 24 (1.84) | 10 (3.26) | 18 (2.44) | 5 (2.10) | 0 |
Heterozygotes | 963 (73.96) | 232 (75.57) | 544 (73.81) | 172 (72.27) | 15 (75.00) |
PTV/PTV | 24 (1.84) | 9 (2.93) | 12 (1.63) | 3 (1.26) | 0 |
PAV/PAV | 645 (49.54) | 149 (48.53) | 368 (49.93) | 118 (46.58) | 10 (50.0) |
R778L/P992L | 90 (6.91) | 16 (5.21) | 54 (7.33) | 18 (7.56) | 2 (10.00) |
R778L/A874V | 53 (4.07) | 7 (2.28) | 39 (5.29) | 6 (2.52) | 1 (5.00) |
R778L/R919G | 25 (1.92) | 4 (1.30) | 16 (2.17) | 5 (2.10) | 0 |
R778L/S975Y | 16 (1.23) | 2 (0.65) | 11 (1.49) | 2 (0.84) | 1 (5.00) |
P992L/A874V | 16 (1.23) | 3 (0.98) | 11 (1.49) | 2 (0.84) | 0 |
R778L/V1106I | 13 (1.00) | 7 (2.28) | 3 (0.41) | 3 (1.26) | 0 |
R778L/V1216M | 12 (0.92) | 0 | 9 (1.22) | 3 (1.26) | 0 |
Others | 420 (32.26) | 110 (35.83) | 225 (30.53) | 79 (33.19) | 6 (30.00) |
PAV/PTV | 294 (22.58) | 74 (24.10) | 164 (22.25) | 51 (21.43) | 5 (25.00) |
R778L/PTV | 96 (7.37) | 25 (8.14) | 58 (7.87) | 12 (5.04) | 1 (5.00) |
P992L/PTV | 48 (3.69) | 12 (3.91) | 24 (3.26) | 12 (5.04) | 0 |
A874V/PTV | 24 (1.84) | 1 (0.33) | 18 (2.44) | 4 (1.68) | 1 (5.00) |
R919G/PTV | 17 (1.31) | 4 (1.30) | 9 (1.22) | 4 (1.68) | 0 |
Others | 109 (8.37) | 32 (10.42) | 55 (7.46) | 19 (7.98) | 3 (15.00) |
One variant identified | 115 (8.76) | 23 (7.49) | 61 (8.28) | 28 (11.76) | 3 (15.00) |
R778L/? | 33 (2.53) | 10 (3.26) | 19 (2.58) | 4 (1.68) | 0 |
P992L/? | 29 (2.23) | 4 (1.30) | 13 (1.76) | 10 (4.20) | 2 (10.00) |
PTV/? | 17 (1.31) | 1 (0.33) | 13 (1.76) | 2 (0.84) | 0 |
A874V/? | 10 (0.77) | 3 (0.98) | 5 (0.68) | 2 (0.84) | 0 |
Other/? | 26 (2.00) | 5 (1.63) | 11 (1.49) | 10 (4.20) | 1 (5.00) |
No variant identified | 20 (1.54) | 8 (2.61) | 11 (1.49) | 1 (0.42) | 0 |