Table 1. Clinical characteristics of a Chinese pedigree with autosomal dominant congenital cataracts in our study.
| Pedigree number | Gender | Age (years) | Genotype | Base on db protein (NP_005258.2) | Phenotype (LOCS 3 scale) |
|---|---|---|---|---|---|
| II:1 |
M |
62 |
C/T |
p.Q227X |
N4C4P3Nc4 |
| II:3 |
F |
68 |
C/T |
p.Q227X |
N4C4P3Nc4 |
| II:4 |
F |
60 |
C/C |
|
Normal |
| II:5 |
M |
70 |
C/C |
|
Normal |
| III:1 |
M |
42 |
C/T |
p.Q227X |
N3C3P3Nc3 |
| III:2 |
F |
38 |
C/C |
|
Normal |
| III:3 |
M |
40 |
C/T |
p.Q227X |
N3C4P3Nc3 |
| III:4 |
M |
36 |
C/C |
|
Normal |
| III:5 |
M |
40 |
C/C |
|
Normal |
| III:6 |
F |
38 |
C/C |
|
Normal |
| III:7 |
F |
43 |
C/T |
p.Q227X |
N3C3P3Nc3 |
| III:9 |
F |
45 |
C/T |
p.Q227X |
N3C3P3Nc3 |
| III:10 |
M |
44 |
C/C |
|
Normal |
| III:11 |
M |
47 |
C/T |
p.Q227X |
N3C4P3Nc3 |
| III:12 |
F |
43 |
C/C |
|
Normal |
| IV:1 |
F |
16 |
C/T |
p.Q227X |
N0C2P0Nc0.6 |
| IV:2 |
F |
18 |
C/C |
|
Normal |
| IV:3 |
M |
20 |
C/T |
p.Q227X |
N0C2P0Nc0.3 |
| IV:4 |
M |
23 |
C/C |
|
Normal |
| IV:5 |
M |
21 |
C/C |
|
Normal |
| IV:6 |
M |
23 |
C/T |
p.Q227X |
N0C3P1Nc1 |
| IV:7 |
F |
22 |
C/C |
|
Normal |
| IV:8 |
F |
26 |
C/T |
p.Q227X |
N0C2P1Nc0.4 |
| V:1 | F | 2 | C/C | Normal |