Table 1.
Mutation | Location | Cataract Types | Inheritary | Family Origin | References |
---|---|---|---|---|---|
Human Cx46 | |||||
D3Y | NT | Zonular Pulverulent | Autosomal dominant | Hispanic | [75] |
L11S | NT | “Ant-egg” | Autosomal dominant | Danish | [74] |
V28M | M1 | Variable | Autosomal dominant (incomplete penetrance) |
Indian | [71] |
F32L | M1 | Nuclear pulverulent & punutate | Autosomal dominant | Chinese | [67] |
R33L | M1 | Finely granular | Autosomal dominant | Indian | [77] |
W45S | E1 | Nuclear | Autosomal dominant | Chinese | [73] |
P59L | E1 | Nuclear punctuate | Autosomal dominant | Caucasian | [68] |
N63S | E1 | Zonular pulverulent | Autosomal dominant | British | [65] |
R76G | E1/M2 | Total | Autosomal dominant | Indian | [71] |
R76H | E1/M2 | Lamellar nuclear pulverulent | Autosomal dominant (incomplete penetrance) |
Australian | [70] |
T87M | M2 | Pearl box | Autosomal dominant | Indian | [76] |
P187L | E2 | Zonular pulverulent | Autosomal dominant | Caucasian | [66] |
N188T | E2 | Nuclear pulverulent | Autosomal dominant | Chinese | [69] |
S380Qfs | CT | Zonular pulverulent & punctuate |
Autosomal dominant | British | [65] |