Table 3 of
Sun, Mol Vis 2017; 23:977-986. Table 3 of
Sun, Mol Vis 2017; 23:977-986.
Table 3. Mutations identified in crystallin genes leading to congenital cataract accompanied with other ocular abnormalities.
| Gene | Mutation | Ocular abnormalities | Area | Reference |
|---|---|---|---|---|
| CRYAA | p.(Arg12Cys) | Congenital cataract, microcornea, macrocephaly; coloboma, glaucoma | Canada | [33] |
| CRYAA | p.(Arg21Trp) | Congenital cataract; microphthalmia, glaucoma | Korea | [26] |
| CRYAA | p.(Arg21Trp) | Congenital cataract; microcornea(1/9), inferior iris coloboma(1/9) | Denmark | [19] |
| CRYAA | p.(Arg116Cys) | Congenital cataract, iris coloboma; microphthalmia(2/12) | France | [34] |
| CRYBA2 | p.(Val50Met) | Congenital cataract; myopia, glaucoma | Uruguay | [33] |
| CRYBA4 | p.(Leu69Prp) | Congenital cataract, microphthalmous | India | [35] |
| CRYBB1 | p.(Val96Phe) | Congenital cataract, glaucoma; microcornea | USA | [33] |
| CRYBB2 | p.(Arg145Trp), p.(Gln147Arg) and p.(Thr150Met) | Congenital cataract, microphthalmia; glaucoma(6/10) | Jewish | [36] |
| CRYBB3 | p.(Val194Gly) | Congenital cataract; glaucoma(2/5) | Italy | [33] |
| CRYGD | p.(Arg140Ter) | Congenital cataract, hyperopia, strabismus | Jewish | [33] |
| CRYGC | p.(Tyr139Ter) | Congenital cataract; microphthalmia/microcornea, corneal opacity, glaucoma | USA | [33] |