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

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

Mutation	Phenotype	Clinical feature	Ethnic	Mode of inheritance	Reference
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]