Table 4 Effect of mutations in Cx50 (GJA8) on the functional state of HCs and GJCs evaluated in a heterologous expression system, the domain that is affected and its phenotype
Domain | Mutation | GJCs Function | HCs Function | Cataract Phenotype |
|---|---|---|---|---|
NT | R23T [242] | (−) | n.d. | Bilateral nuclear |
TM1/ECL1 | V44A [243] | n.d | (−) | Suture-sparing nuclear |
V44E [110] | (−) | n.d. | Whole lens | |
(−) | (−) | Jellyfish-like appearance, Micro cornea | ||
ECL1 | (+) | (+) | Total | |
(−) | n.d. | Nuclear Pulverulent | ||
(−) | Normal | Zonular Nuclear Pulverulent | ||
(−) | (−) | Altered fiber cell formation, dense cataract and posterior capsule rupture | ||
TM2 | V79L [110] | (−) | n.d. | “Full moon” with Y-suture Opacities |
(−) | n.d. | Zonular Pulverulent | ||
P88Q [247] | (−) | n.d. | Lamellar Pulverulent | |
CT | (−) | (−) | Nuclear Pulverulent | |
Cx50fs [250] | (−) | n.d. | Triangular |