Table 4 of
Kumar, Mol Vis 2013; 19:2436-2450. Table 4 of
Kumar, Mol Vis 2013; 19:2436-2450.
Table 4. Summary of the mutations identified in CRYBA4, CRYBB1, CRYBB2 and GJA3 genes with different congenital cataract phenotypes belonging to different populations (Cat-Map).
| Gene | Exon/ Intron | DNA Change | Coding Change | Pattern of Inheritance | Origin | Cataract Phenotype |
|---|---|---|---|---|---|---|
| CRYBB2 | Ex2 | c.5C>T | p.A2V | AD | China | Congenital posterior subcapsular |
| Ex2 | c.54G>A | p.K18KfsX17 | India | Congenital zonular | ||
| Ex2 | c.62T>A | p.I21N | China | Nuclear | ||
| Ex2 | c.92C>G | p.S31W | AD | China | Coronary | |
| Ex4 | c.177G>C | p.W59C | AD | India | Total | |
| Ex5 | c.383A>T | p.D128V | AD | Germany | Nuclear, “ring-shaped” cortical | |
| Ex5 | c.(433C>T; 440A>G; 449C>T) | p.(R145W; Q147R; T150M) | ? | Denmark | ? | |
| Ex5 | c.436G>A | p.V146M | AD? | China | Nuclear (Microcornea) | |
| Ex6 | c.452G>C | p.W151C | AD | India | Central nuclear | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | USA | Cerulean | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | Switzerland | Central zonular pulverulent | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | India | Sutural cerulean | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | China | Progressive polymorphic | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | Chile | Variable | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | China | Progressive polymorphic coronary | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | ? | India | Cortical, pulverulent | |
| Ex6 | c.463C>T, c.471C>T | p.Q155X | AD | China | Cerulean | |
| Ex6 | c.477C>A | p.Y159X | ? | Denmark | ? | |
| Ex6 | c.607G>A | p.V187M | AD | Lesotho | Nuclear (Strabismus) | |
| CRYBB1 | Ex1 | c.2T>A | p.M1K | AR | Somalia | Nuclear, pulverulent |
| Ex2 | c.171delG | p.G57GfsX107 (p.N58TfsX106) | AR | Israel | Nuclear | |
| Ex6 | c.658G>T | p.G220X | AD | USA | Central sutural pulverulent | |
| Ex6 | c.667C>T | p.Q223X | AD | China | Nuclear progressive | |
| Ex6 | c.682T>C | p.S228P | AD | China | Nuclear (Nystagmus) | |
| Ex6 | c.698G>A | p.R233H | AD | China | Nuclear (Nystagmus) | |
| Ex6 | c.757T>C | p.X253RextX27 | AD | UK | Nuclear cortical riders (Microcornea) | |
| CRYBA4 | Ex4 | c.190G>T | p.G64W | China | Congenital nuclear (Microcornea) | |
| Ex4 | c.206T>C | p.L69P | AD | India | ? (Microphthalmia) | |
| Ex4 | c.281T>C | p.F94S | AD | India | Lamellar | |
| GJA3 | Ex2 | c.-39C>G | Cx | China | Age-related nuclear | |
| Ex2 | c.5G>A | p.G2D | AD | China | Nuclear pulverulent, Posterior polar | |
| Ex2 | c.7G>T | p.D3Y | AD | Honduras | Zonular pulverulent | |
| Ex2 | c.32T>C | p.L11S | AD | Denmark | “Ant-egg” | |
| Ex2 | c.56C>T | p.T19M | AD | India | Posterior polar | |
| Ex2 | c.82G>A | p.V28M | AD | India | Total, anterior capsular, cortical | |
| Ex2 | c.96C>A | p.F32L | AD | China | Nuclear pulverulent | |
| Ex2 | c.98G>T | p.R33L | AD | India | Granular embryonal | |
| Ex2 | c.130G>A | p.V44M | AD | China | Central nuclear (punctate cortical) | |
| Ex2 | c.130G>A | p.V44M | AD | USA | ? | |
| Ex2 | c.134G>C | p.W45S | AD | China | Nuclear | |
| Ex2 | c.139G>A | p.D47N | AD | China | Nuclear | |
| Ex2 | c.176C>T | p.P59L | AD | USA | Nuclear punctate | |
| Ex2 | c.176C>T | p.P59L | AD | Denmark | ? | |
| Ex2 | c.176C>T | p.P59L | AD | China | ? | |
| Ex2 | c.188A>G | p.N63S | AD | UK | Variable pulverulent | |
| Ex2 | c.226C>G | p.R76G | AD | India | Total | |
| Ex2 | c.227G>A | p.R76H | AD | Australia | Nuclear lamellar pulverulent | |
| Ex2 | c.227G>A | p.R76H | AD | Denmark | Lamellar, sutural | |
| Ex2 | c.260C>T | p.T87M | AD | India | “Pearl-box” | |
| Ex2 | c.415G>A | p.V139M | Cx | China | Age-related cortical | |
| Ex2 | c.560C>T | p.P187L | AD | UK | Zonular pulverulent | |
| Ex2 | c.559C>T | p.P187S | AD | China | Nuclear pulverulent | |
| Ex2 | c.563A>C | p.N188T | AD | China | Nuclear pulverulent | |
| Ex2 | c.1137insC | p.S380QfsX87 | AD | UK | Punctate | |
| Ex2 | c.1143_1165del23 | p.381fs*48 | AD | China | Punctate nuclear | |
| BFSP1 | Ex6 | c.736–957del | p.T246del74fsX6 | AR | India | Cortical progressive, juvenile onset |