Table 3 of Sun, Mol Vis 2017; 23:977-986.


Table 3. Mutations identified in crystallin genes leading to congenital cataract accompanied with other ocular abnormalities.

Gene Mutation Ocular abnormalities Area Reference
CRYAA p.(Arg12Cys) Congenital cataract, microcornea, macrocephaly; coloboma, glaucoma Canada [33]
CRYAA p.(Arg21Trp) Congenital cataract; microphthalmia, glaucoma Korea [26]
CRYAA p.(Arg21Trp) Congenital cataract; microcornea(1/9), inferior iris coloboma(1/9) Denmark [19]
CRYAA p.(Arg116Cys) Congenital cataract, iris coloboma; microphthalmia(2/12) France [34]
CRYBA2 p.(Val50Met) Congenital cataract; myopia, glaucoma Uruguay [33]
CRYBA4 p.(Leu69Prp) Congenital cataract, microphthalmous India [35]
CRYBB1 p.(Val96Phe) Congenital cataract, glaucoma; microcornea USA [33]
CRYBB2 p.(Arg145Trp), p.(Gln147Arg) and p.(Thr150Met) Congenital cataract, microphthalmia; glaucoma(6/10) Jewish [36]
CRYBB3 p.(Val194Gly) Congenital cataract; glaucoma(2/5) Italy [33]
CRYGD p.(Arg140Ter) Congenital cataract, hyperopia, strabismus Jewish [33]
CRYGC p.(Tyr139Ter) Congenital cataract; microphthalmia/microcornea, corneal opacity, glaucoma USA [33]