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

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