Table 1.
The pathogenic mutations identified in Chinese families with congenital cataract.
| Family ID | Gene | Nucleotide | Amino acid | Mutation type | Status | Bioinformation prediction | Variant in controls | Note | |
|---|---|---|---|---|---|---|---|---|---|
| SIFT | Polyphen-2 | ||||||||
| 1 | CRYBA4 | c.26C > T | p.A9V | missense | Hetero | 0.66 | 0 | 0/100 | Novel |
| 4 | CRYGS | c.53G > A | p.G18D | missense | Hetero | 0 | 0.989 | 0/100 | Novel |
| 5 | CRYBA1 | c.271_273delGGA | p.G91del | flame shift | Hetero | / | / | 0/100 | Novel |
| 6 | HSF4 | c.-497-8C > G | intronic | Hetero | / | / | 0/100 | Novel | |
| 7 | CRYGS | c.224_225GC > TT | p.G75V | missense | Hetero | 0 | 0.999 | 0/100 | Novel |
| 9 | CRYBA1 | c.607C > T | p.Q203X | nonsense | Hetero | 1 | 0.735289 | 0/100 | Novel |
| 10 | EZR | c.1597-7insTAAT | splicing site | Hetero | / | / | 0/100 | Novel | |
| 14 | VIM | c.623A > G | p.Q208R | missense | Hetero | 0.07 | 0.712 | 0/100 | Novel |
| 15 | MIP | c.607-1G > A | splicing site | Hetero | / | / | 0/100 | [8] | |
| 16 | CRYBB2 | c.463C > T | p.Q155X | nonsense | Hetero | 0.01 | 0.641104 | 0/100 | [9] |
| 17 | CRYBB2 | c.452G > A | p.W151X | nonsense | Hetero | 0 | 0.641681 | 0/100 | Novel |
| 18 | CRYBA2 | c.343A > G | p.N115D | missense | Hetero | 0.22 | 0.004 | 0/100 | Novel |
| 19 | BFSP1 | c.625 + 3A > G | splicing site | Hetero | / | / | 0/100 | Novel | |
| 22 | CRYGD | c.70C > A | p.P24T | missense | Hetero | 0.05 | 0.102 | 0/100 | [10] |
| 24 | PAX6 | c.795delA | p.E265fs | flame shift | Hetero | / | / | 0/100 | Novel |
| 26 | CRYGD | c.43C > A | p.R15S | missense | Hetero | 0 | 0.974 | 0/100 | [11] |
| 27 | PAX6 | c.342G > A | p.W114X | nonsense | Hetero | 0 | 0.735284 | 0/100 | Novel |