Skip to main content
. Author manuscript; available in PMC: 2018 Nov 29.
Published in final edited form as: Curr Mol Med. 2010 Dec;10(9):851–863. doi: 10.2174/156652410793937750

Table 1.

Cx46 Mutation Identified in Human Congenital Cataracts

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]