Table 3 of Hu, Mol Vis 2010; 16:1585-1592.

Table 3. Mutations of GJA8 in association with congenital cataract.



Clinical feature

Mode of inheritance
P.R23T Nuclear cataract dense nuclear (fetal/embryonal) Iranian Dominant [18]
p.I31T Congenital nuclear cataract Congenital nuclear cataract Chinese Dominant [19]
p.V44E CCMC Total lens opacification and microcornea Indian Dominant [11]
p.W45S CCMC Opacity appeared axial, extending from the anterior capsule to the posterior capsule. comprised about a dozen finger-like projections radiating in all directions, and microcornea Indian Dominant [20]
p.D47Y Congenital nuclear cataract Congenital nuclear cataract Chinese Dominant [21]
p.D47N Nuclear pulverulent Pulverulent opacities confined to the fetal and embryonal nucleus English Dominant [4]
p.E48K Zonular pulverulent cataract Dust-like opacities, more dense throughout the nucleus. Several cortical riders in the zonular region Paskistani Dominant [22]
p.V64G Nuclear cataract Congenital nuclear cataract Chinese Dominant [23]
p.V79L Full-moon cataract with Y-sutural full moon with both the Y-sutures being affected. The fetal nucleus surrounding the embryonal nucleus showed very fine white granular opacities. Indian Dominant [24]
p.P88S Zonular pulverulent cataract innumerable powdery opacities located in the nuclear and lamellar zones. Affects both the embryonic and fetal nucleus English Dominant [25]
p.P88Q Balloon-like cataract with Y-sutural opacities Fetal nucleus and Y-sutures affected. Between the Y-sutures, feathery opacities are present.Three riders present at the perimetry of opaque fetal nucleus Indian Dominant [26]
p.P88Q Pulverulent nuclear cataract Pulverulent opacities in the fetal nucleus British Dominant [27]
p.P189L CCMC Star-shaped nuclear opacity with a whitish central core and microcornea Danish Dominant [8]
p.R198Q CCMC Posterior subcapsular cataract and microcornea Indian Dominant [11]
p.R198W CCMC Nucler cataract associated with microcornea Chinese Dominant This study
p.203fs Cataract and microcornea Total cataract associated with microcornea, microphthalmia Indian Recessive [28]
p.S276F Pulverulent nuclear cataract White granular opacities in fetal and embryonal nucleus Chinese Dominant [29]
c.776insG Triangular nuclear cataract Dense, triangular nuclear cataract.At the periphery, additional opaque zones can be observed Germany Recessive [30]