Table 3 of
Yu, Mol Vis 2012; 18:2213-2220. Table 3 of
Yu, Mol Vis 2012; 18:2213-2220.
Table 3. Previous CRYBA3/BA1 gene mutations associated with congenital cataracts.
| Bp exchange | Aa exchange | Biologic consequence | Origin of family | Reference |
|---|---|---|---|---|
| c.215+1G>A | Splice site mutation | zonular lamellar opacities cataract and floriform | Indian | [6] |
| c.215+1G>C | Splice site mutation | pulverulent, star-shaped, shieldlike and radial cataract | Brazilian | [26] |
| c.215+1G>T | Splice site mutation | Y-suture, nucleus and cortical cataract | Chinese | [27] |
| c.215+1G>A | Splice site mutation | Y-sutural,mild nucleus and cortical dot cataract | Australian | [32] |
| c.215+1G>A | Splice site mutation | progressive childhood nucleus and peripheral cortex cataract | Chinese | [33] |
| c.215+1G>A | Splice site mutation | posterior polar cataract | Chinese | [34] |
| c.215+1G>A | Splice site mutation | zonular cataract with sutural opacity | Indian | [35] |
| c.279_281del | p.Gly91del | nuclear cataract | Chinese | [28] |
| c.279_281del | p.Gly91del | pulverulent nuclear congenital cataracts | Chinese | [29] |
| c.279_281del | p.Gly91del | pulverulent lamellar congenital cataracts | Chinese | [29] |
| c.279_281del | p.Gly91del | nuclear cataract | Swiss | [30] |
| c.279_281del | p.Gly91del | lamellar cataract | Britain | [31] |