Table 2

Identified human congenital cataract mutations

Locus Gene Protein Mutation No of mutations Phenotype OMIM No Reference
1q21-q25 GJA8 Connexin 50Missense2Pulverulent600897 (11622) 41
2q33-q35 CRYGC γC-crystallinMissense2-150 1Coppock-like604307 (123660) 49, 50
2q33-q35 CRYGC γC-crystallinMissense1Aceuliform604307 50
2q33-q35 CRYGD γD-crystallinMissense1Nuclear123690 51
10q24-25 PITX3 Pitx3Missense1Total602669 37
13q11-q13 GJA3 Connexin 46Missense2Pulverulent121015 (601885) 43
17q11.1-q12 CRYBA1 βA3 crystallinSplice site1Sutural600881 54
21q22.3 CRYAA αA-crystallinMissense1Zonular central nuclear123580 56
22q11.2 CRYBB2 βB2-crystallinChain termination1Cerulean123620 (601547) 52
22q11.2 CRYBB2 βB2-crystallinMissense1Coppock-like604307 53
  • OMIM refers to Online Mendelian Inheritance in Man (

  • 2-150 Re-examination of the original data suggests that the sequence changes noted originally in the γE-pseudogene may not be the cause of the cataract.50