Table 4.
Phenotypes and genotypes of the WD patients
| No. | Sex | Onset age | NT change | Mutation type | Phenotype | Presense of K-F ring | Serum ceruloplamin (g/L) | 24h-urinary copper (μmol) | Liver copper content (μg/g) |
|---|---|---|---|---|---|---|---|---|---|
| WD001 | female | 11 | c.2975C>T; c.2561A>G | heterozygous | H | + | 0.07 | 8.63 | 1,434.00 |
| WD002 | male | 41 | c.3818C>A; c.3316G>A | heterozygous | N | + | 0.09 | 5.98 | NA |
| WD003 | male | 29 | c.2975C>T | heterozygous | H | - | 0.14 | 0.53 | 348.00 |
| WD004 | male | 34 | c.2333G>T; c.3982G>A | heterozygous | presymptomic or no symptoms | + | 0.09 | 5.44 | 400.00 |
| WD005 | female | 19 | c.3901_3902 insA; c.2333G>T; c.2310C>G | heterozygous | H and N | + | 0.02 | 4.88 | NA |
| WD006 | male | 38 | c.2333G>T; c.2310C>G | heterozygous | H | - | 0.09 | 2.45 | 1,504.00 |
| WD007 | female | 28 | c.2975C>T; c.2755C>G | heterozygous | H | + | 0.11 | 5.70 | NA |
| WD008 | male | 29 | c.2333G>T; c.2310C>G | heterozygous | N | + | 0.03 | 4.50 | NA |
| WD009 | male | 18 | c.3443T>C; c.2662A>C | heterozygous | H and N | + | 0.03 | 3.28 | NA |
| WD010 | female | 29 | c.2333G>T; c.2549C>T | heterozygous | H and N | + | 0.14 | 2.33 | NA |
| WD011 | female | 12 | c.2975C>T; c.3445G>A; c.748G>A | heterozygous | H and N | + | 0.04 | 3.09 | 1,331.00 |
| WD012 | male | 9 | c.3443T>C; c.1745_1746 delTA | heterozygous | N | + | 0.03 | 2.50 | 295.80 |
| WD013 | male | 38 | c.2621C>T | heterozygous | H and N | + | 0.03 | 6.15 | NA |
| WD014 | male | 41 | c.1708-1G>C; c.3960G>C | heterozygous | H and N | + | 0.15 | 2.33 | NA |
| WD015 | male | 21 | c.2333G>T; c.3451C>T | heterozygous | H and N | - | 0.02 | 2.72 | 764.00 |
| WD016 | male | 27 | c.2620G>C | homozygous | N | + | 0.02 | 9.92 | NA |
| WD017 | male | 10 | c.2975C>T; c.3843_3844 insT | heterozygous | H | + | 0.12 | 5.17 | NA |
| WD018 | female | 23 | c.2333G>T; c.2506G>A; c.2310C>G | heterozygous | H | + | 0.02 | 3.53 | 1,109.00 |
| WD019 | male | 24 | c.3443T>C; c.3316G>A | heterozygous | presymptomic or no symptoms | - | 0.06 | 1.47 | 1,110.70 |
| WD020 | female | 27 | c.3443T>C; c.3316G>A | heterozygous | H | - | 0.07 | 4.11 | 956.00 |
| WD021 | female | 25 | c.3809A>G; c.2804C>T | heterozygous | H | + | 0.38 | 5.13 | NA |
| WD022 | male | 31 | c.2333G>T; c.2310C>G; c.2231C>T | heterozygous | H | + | 0.08 | 59.18 | NA |
| WD023 | female | 14 | c.3884C>T | heterozygous | H | + | 0.05 | 4.73 | NA |
| WD024 | female | 5 | c.3061-3C>A | homozygous | H | + | 0.03 | 2.34 | NA |
| WD025 | female | 5 | c.2333G>T; c.3679G>C; c.2310C>G | heterozygous | H | - | 0.02 | 1.25 | NA |
| WD026 | female | 32 | c.2333G>T; c.2310C>G; c.2621C>T | heterozygous | H and N | + | 0.03 | 5.86 | NA |
| WD027 | male | 8 | c.2304_2305 insC; c.3809A>G | heterozygous | N | + | 0.04 | 1.92 | 421.00 |
| WD028 | male | 11 | c.2975C>T; c.2304_2305 insC | heterozygous | H | + | 0.07 | 4.70 | NA |
| WD029 | male | 12 | c.2333G>T; c.2924C>A; c.2310C>G | heterozygous | H and N | + | 0.07 | 5.53 | NA |
| WD030 | male | 28 | c.2333G>T; c.3443T>C; c.2310C>G | heterozygous | N | + | 0.03 | 1.28 | NA |
| WD031 | male | 18 | c.2333G>T; c.2310C>G; c.121A>G | heterozygous | H | - | 0.06 | 2.13 | 950.00 |
| WD032 | male | 4 | c.3809A>G; c.2333G>T; c.2310C>G | heterozygous | presymptomic or no symptoms | + | 0.04 | 5.95 | 395.00 |
| WD033 | female | 23 | c.2333G>T; c.2310C>G | homozygous | H and N | + | 0.04 | 1.42 | 1,161.00 |
| WD034 | male | 21 | c.2333G>T; c.2310C>G | homozygous | presymptomic or no symptoms | + | 0.03 | 6.55 | NA |
| WD035 | female | 37 | c.3140A>T; c.2333G>T | heterozygous | H and N | + | 0.03 | 3.15 | NA |
| WD036 | male | 25 | c.3700 delG; c.1994T>G | heterozygous | H and N | + | 0.02 | NA | NA |
| WD037 | female | 12 | c.3584C>T; c.2333G>T; c.2310C>G | heterozygous | H | + | 0.20 | 20.51 | NA |
| WD038 | male | 4 | c.2975C>T; c.2662A>C | heterozygous | H | - | 0.03 | 1.31 | NA |
| WD039 | male | 36 | c.3377_3378 delAC | heterozygous | presymptomic or no symptoms | NA | 0.19 | NA | NA |
| WD040 | male | 42 | c.2593_2594insGTCA; c.3316G>A | heterozygous | H | + | 0.03 | 1.97 | NA |
| WD041 | female | 14 | EX2 DEL; c.3056A>C | heterozygous | H and N | + | 0.05 | 55.08 | NA |
| WD042 | female | 8 | c.2333G>T; c.2012_2013 insATAT | heterozygous | H | + | 0.04 | 4.19 | NA |
| WD043 | male | 24 | c.898_902 delAAGTA; c.2308C>T | heterozygous | H and N | + | 0.09 | 12.19 | NA |
| WD044 | male | 8 | c.2975C>T; c.2828G>A | heterozygous | N | + | 0.05 | NA | NA |
| WD045 | male | 21 | c.3007G>A; c.3677C>T | heterozygous | H | - | 0.12 | 2.53 | 1,080.00 |
| WD046 | male | 10 | c.2333G>T; c.2310 C>G | heterozygous | H | - | 0.02 | 3.92 | 1,030.30 |
| WD047 | female | 24 | c.2333G>T; c.2310C>G | homozygous | H | + | 0.02 | 2.08 | NA |
| WD048 | male | 18 | c2333G>T; c3452G>A; c.2310C>G | heterozygous | H | - | 0.02 | 4.10 | NA |
| WD049 | male | 30 | c.2975C>T; c.2605G>A | heterozygous | H | - | 0.06 | 2.81 | 908.00 |
| WD050 | male | 13 | c.3443T>C; c.2662A>C | heterozygous | H and N | + | 0.12 | 8.61 | NA |
| WD051 | male | 22 | c.2333G>T; c.2304_2305 insC; c.2310C>G | heterozygous | H | + | 0.03 | 5.39 | NA |
| WD052 | female | 48 | c.2621C>T; c.3377_3378 delAC | heterozygous | H and N | + | NA | 14.45 | NA |
| WD053 | male | 1 | c.2333G>T; c.1708-1G>C; c.2310C>G | heterozygous | N | + | 0.05 | NA | 111.00 |
| WD054 | female | 8 | c.2975C>T | homozygous | H and N | + | 0.09 | 8.95 | NA |
| WD055 | male | 24 | c.4114C>T; c.2128G>A | heterozygous | H and N | + | 0.03 | 5.26 | NA |
| WD056 | female | 24 | c.3443T>C | homozygous | H | + | 0.03 | 5.47 | NA |
| WD057 | male | 7 | c.2333G>T; c.3809A>G | heterozygous | H | + | 0.04 | 7.08 | NA |
| WD058 | female | 23 | c.2333G>T; c.3443T>C; c.2310C>G | heterozygous | H and N | + | 0.07 | 5.41 | 1,540.00 |
| WD059 | male | 19 | c.2333G>T; c.2310 C>G | homozygous | H and N | + | 0.04 | 5.39 | NA |
| WD060 | male | 13 | c.3443T>C; c.2304_2305 insC | heterozygous | H | + | 0.03 | 5.47 | NA |
| WD061 | male | 24 | c.3316G>A | heterozygous | H | - | 0.07 | 13.92 | NA |
| WD062 | male | 35 | c.2333G>T; c.2310C>G; c.2621C>T | heterozygous | H and N | + | 0.02 | 14.26 | NA |
| WD063 | female | 40 | c.2333G>T; c.2310C>G; c.2621C>T | heterozygous | H and N | - | 0.03 | NA | NA |
| WD064 | male | 27 | c.2755C>G; c.2333G>T; c.2310C>G | heterozygous | H and N | NA | 0.05 | NA | NA |
| WD065 | male | 8 | c.2333G>T; EX2 DEL | heterozygous | H | + | 0.02 | 33.69 | NA |
| WD066 | female | 41 | c.2621C>T; c.2755C>G | heterozygous | H | NA | 0.07 | 1.95 | NA |
| WD067 | male | 34 | - | - | H | - | 0.12 | 0.13 | NA |
| WD068 | female | 42 | - | - | H | + | 0.17 | 0.03 | NA |
Abbreviations: H, hepatic; H and N, hepatic and neurological; N, neurological.