Molecular Vision: Kumar, Mol Vis 2011; 17:693-707. Table 4

Table 4. Summary of the mutations identified in CRYGD, CRYGC, and GJA8 with different congenital cataract phenotypes belonging to different ethnic groups.

Gene	Nucleotide	Amino acid	Phenotype	Ethnicity	Reference
CRYGD	c.43C>T	p.Arg15Cys	Punctate cataract, juvenile progressive, Coralliform/nuclear	Caucasian, Chinese	[70]
CRYGD	c.43C>A	p.Arg15Ser	Coralliform	Chinese	[71]
CRYGD	c.70C>A	p.Pro24Thr	Lamellar, Cerulean Coral-shaped- coralliform, Flaky-silica-like nuclear cataract, Fasciculiform	Indian, Moroccan, Caucasian, Australian, Chinese, Saudi Arabian	[46,72]
CRYGD	c.109C>A	p.Arg37Ser	with protein crystallization, Nuclear golden crystal	Czech boy, Chinese	[73]
CRYGD	c.168C>G	p.Tyr56Stop	Nuclear	Brazilian	[74]
CRYGD	c.176G>A	p.Arg59His	Aculeiform	Macedonian	[44]
CRYGD	c.181G>T	p.Gly61Cys	Coralliform	Chinese	[75]
CRYGD	c.320A>C	p.Glu107Ala	Nuclear	Hispanic	[76]
CRYGD	c.403C>A	p.Tyr134Stop	No data	Danish	[69]
CRYGD	c.418C>T	p.Arg140Stop	Nuclear	Indian	[41]
CRYGD	c.470G>A	p.Trp157Stop	Nuclear	Indian	[46]
CRYGD	c.494delG	p.Gly165fs	Nuclear	Chinese	[72]
CRYGD	c.229C>A	p.Arg77Ser	Anterior polar, Coronary	Indian	[77]
CRYGC	c.13A>C	p.Thr5Pro	Coppock-like	----	[44]
CRYGC	c.123insGCGGC	p.Gly41delinsGlyfsX62	Zonular pulverulent	----	[45]
CRYGC	c.502C>T	p.Arg168Trp	Lamellar/nuclear	----	[46]
CRYGC	c.327C>A	p.Cys109X	Nuclear	Chinese	[47]
CRYGC	c. 181G>A	p.Arg48His	Zonular and nuclear cataract	North Indian	Present study
GJA8	c.68G>C	p.Arg23Thr	Progressive dense nuclear	Iranian	[54]
GJA8	c.92T>C	p.Ile31Thr	Nuclear cataract	Chinese	[55]
GJA8	c.131T>A	p.Val44Glu	Cataract and microcornea	Indian	[68]
GJA8	c.134G>C	p.Trp45Ser	Jellyfish-like cataract and microcornea	Indian	[56]
GJA8	c.139G>A	p.Asp47Asn	Nuclear pulverulent cataract	English	[57]
GJA8	c.139G>T	p.Asp47Tyr	Nuclear cataract	Chinese	[58]
GJA8	c.142G>A	p.Glu48Lys	Zonular nuclear pulverulent	Pakistani	[59]
GJA8	c.191T>G	p.Val64Gly	Nuclear cataract	Chinese	[60]
GJA8	c.235G>C	p.Val79Leu	Full moon like with Y-sutural opacities	Indian	[61]
GJA8	c.262C>T	p.Pro88Ser	Zonular pulverulent	English	[62]
GJA8	c.262C>A	p.Pro88Gln	“Balloon-like”cataract with Y-sutural opacities	English, Indian	[63]
GJA8	c.565C>T	p.Pro189Leu	Nuclear cataract and microcornea	Danish	[69]
GJA8	c.593G>A	p.Arg198Gln	Posterior subcapsular cataract and microcornea	Indian	[68]
GJA8	c.670insA	Fs	Total cataract and nystagmus	Indian	[64]
GJA8	c.741T>G	p.Ile247Met	Zonular pulverulent cataract	Russian	[65]
GJA8	ins776G	Fs	Triangular nuclear cataract	German	[66]
GJA8	c.827C>T	p.Ser276Phe	Pulverulent nuclear cataract	Chinese	[67]
GJA8	c. 905T>C	p.Leu281Cys	Zonular Cataract	North Indian	Present study