Table 1 of Vanita, Mol Vis 2008; 14:1171-1175.

Table 1. Mutations identified in connexin 50 in association with different cataract phenotypes in different congenital cataract families.

Amino acid change Location/GJA8 Domain Cataract type Phenotype description Origin of family References
p.R23T Cytoplasmic NH2-terminal Congenital nuclear Progressive, dense nuclear (fetal/embryonal) Iranian [23]
p.V44E First transmembrane domain (M1) Congenital cataract and microcornea Total lens opacification Indian [24]
p.W45S First transmembrane domain (M1) Jellyfish-like cataract and microcornea Axial lens opacity with finger-like projections extended in all directions Indian [25]
p.D47N First extracellular loop (E1) Nuclear pulverulent Opacities confined to the fetal and embryonal nucleus English [26]
p.D47Y First extracellular loop (E1) Autosomal dominant congenital cataract Autosomal dominant congenital cataract Chinese [27]
p.E48K First extracellular loop (E1) Zonular nuclear pulverulent Non-progressive, fine dust-like opacities, more dense throughout the nucleus. Several cortical riders in the zonular region Pakistani [28]
p.V64G First extracellular loop (E1) Congenital nuclear Congenital nuclear cataract Chinese [29]
p.V79L Second transmembrane domain (M2) Full moon like with Y-sutural opacities Stationary cataract both Y-sutures affected. No opacities in the embryonal nucleus, fine granular white opacity outside the embryonal nucleus in the fetal nuclear region Indian [22]
p.P88Q Second transmembrane domain (M2) Lamellar pulverulent Pulverulent opacities in the fetal nucleus, embryonal nucleus clear English [20]
p.P88Q Second transmembrane domain (M2) Balloon-like cataract with Y-sutural opacities Fetal nucleus and Y-sutures affected. In between the Y-sutures, feathery opacities are present. Three riders present at the perimetry of opaque fetal nucleus. No “pulverized” dust-like opacities in the lens Indian present study
p.P88S Second transmembrane domain (M2) Zonular pulverulent Non-progressive innumerable powdery opacities located in the nuclear and lamellar zones. Affects both the embryonic and fetal nucleus: “total nuclear cataract” English [10]
p.P189L Second extracellular loop (E2) Congenital cataract and microcornea Star shaped nuclear opacity with a whitish central core Danish [30]
p.R198Q Second extracellular loop (E2) Cataract and microcornea Posterior subcapsular Indian [24]
p.203fs Second extracellular loop (E2) Cataract and nystagmus Total cataract and nystagmus Indian [31]
p.I247M Cytoplasmic COOH-terminus Zonular pulverulent Progressive, non homogeneous opacity consisting of opaque particles of different sizes, most of these very small, distributed unequally in a disc of 5 mm in diameter in the center of the lens. Also a slightly cloudy inhomogeneous area of 2 mm at posterior pole Russian [32]
p.S276F Cytoplasmic COOH-terminus Pulverulent nuclear White granular opacities in fetal and embryonal nucleus Chinese [33]