Table 2.
Cx50 Mutation Identified in Human Congenital Cataracts
| Mutation | Location | Cataract Types | Inheritary | Family Origin | References |
|---|---|---|---|---|---|
| Human Cx50 | |||||
| R23T | NT | Nuclear | Autosomal dominant | Iranian | [79] |
| V44E | M1 | Cataract & microcornea | Autosomal dominant | Indian | [82] |
| W45S | E1 | Jellyfish-like bilateral & microcornea | Autosomal dominant | Inidian | [73] |
| D47N | E1 | Nuclear pulverulent | Autosomal dominant | British | [85] |
| E48K | E1 | Zonular nuclear pulverulent | Autosomal dominant | Pakistani | [32] |
| V64G | E1/M2 | Nuclear | Autosomal dominant | Chinese | [72] |
| V79L | M2 | “Full mone” Y-sutural opacity | Autosomal dominant | Indian | [80] |
| P88S | M2 | Zonular pulverulent | Autosomal dominant | British | [64] |
| P88Q | M2 | Lamellar pulverulent | Autosomal dominant | British | [81] |
| Ins776G | CL | Triangular | Autosomal recessive | Germany | [88] |
| P189L | E2 | Cataract & microcornea | Autosomal dominant | Danish | [83] |
| R198Q | E2 | Cataract & microcornea | Autosomal dominant | Indian | [82] |
| 203fs | E2 | Cataract | Autosomal recessive | Indian | [84] |
| I247M | CT | Zonular pulverulent | Autosomal dominant | Russian | [78] |
| S276F | CT | Nuclear pulverulent | Autosomal dominant | Chinese | [86] |