Table 1 of
Rao, Mol Vis 2017; 23:624-637. Table 1 of
Rao, Mol Vis 2017; 23:624-637.
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 |