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. 2012 Aug 8;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]