Table 1 of Vanita, Mol Vis 2009; 15:476-481. Table 1 of Vanita, Mol Vis 2009; 15:476-481.
Table 1. Identified mutations in human CRYGS associated with different types of congenital cataract.
| Amino acid change | Location |
Cataract type/phenotype description |
Origin of the family | Reference |
|---|---|---|---|---|
| p.G18V | Exon 2 Motif 1; Domain 1 | Autosomal dominant progressive cortical cataract showing opacities in the anterior, posterior and peripheral cortical regions. No opacity in the fetal nuclear region. Intra-familial and intra-ocular phenotypic variability observed in affected individuals. | Chinese | [14] |
| p.S39C | Exon 2 Motif 1; Domain 1 | Autosomal dominant progressive juvenile onset cataract. Unilateral sutural opacities in one affected individual, lamellar opacities in another affected member. Phenotypic variation in the size, density and position of opacities documented for other affected individuals as well. | South Indian | [15] |
| p.V42M | Exon 2 Motif 1; Domain 1 | Autosomal dominant congenital cataract. In the index case opalescent type cataract. Central nuclear region denser as compared to periphery. All other affected members were operated for bilateral cataract in their childhood. | North Indian | Present study |