Table 1.
Summary of Human Cx46 and Cx50 Mutants Associated with Cataract Formation
| |
Disease phenotype
|
||
|---|---|---|---|
| Mutant connexin | Cataract appearance | Other features | Reference |
| Cx46 | |||
| D3Y | Zonular pulverulent | 1 | |
| L11S | “Ant-egg” | 49 | |
| V28M | Variable | 25 | |
| F32L | Nuclear pulverulent | 59 | |
| R33L | Finely granular embryonal | 47 | |
| W45S | Nuclear | 86 | |
| P59L | Nuclear punctuate | 9 | |
| N63S | Zonular pulverulent | 87 | |
| R76G | Total | 25 | |
| R76H | Lamellar nuclear opacity surrounding pulverulent nuclear opacities. | Dominant inheritance with incomplete penetration | 18 |
| T87M | “Pearl box” | 48 | |
| P187L | Homogeneous zonular pulverulent | 128 | |
| N188T | Nuclear pulverulent | 74 | |
| fs380 | Zonular pulverulent | 87 | |
| Cx50 | |||
| R23T | Nuclear | 172 | |
| V44E | Total | Microcornea and variably associated with myopia | 26 |
| W45E | Jellyfish-like | Associated with microcornea | 165 |
| D47N | Nuclear pulverulent | 4 | |
| E48K | “Zonular nuclear” pulverulent | 10 | |
| V64G | Nuclear | 86 | |
| V79L | “Full moon” with Y-sutural opacities | 163 | |
| P88Q | Lamellar pulverulent | 5 | |
| Balloon-like with Y-sutural opacities | 164 | ||
| P88S | Zonular pulverulent | 142 | |
| P189L | Star-shaped nuclear opacity with a whitish central core | Associated with microcornea | 50 |
| R198Q | Not available | Microcornea and variably associated with myopia | 26 |
| fs203 | Total | Recessive inheritance; associated with nystagmus and amblyopia. | 120 |
| I247M | Zonular pulverulent | 119 | |
| S276F | Nuclear pulverulent | 175 | |