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