Mutations in the CRYBB3 gene have been identified in 2 families with cataract, described as congenital nuclear cataract with cortical riders.
The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.' ... Mutations in the CRYBB3 gene have been identified in 2 families with cataract, described as congenital nuclear cataract with cortical riders. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.'
Riazuddin et al. (2005) described 2 consanguineous Pakistani families from the Punjab region with autosomal recessive nonsyndromic congenital nuclear cataract with cortical riders.
In affected members of 2 consanguineous Pakistani families segregating nonsyndromic congenital cataract mapping to chromosome 22q11, Riazuddin et al. (2005) sequenced the beta-crystallin genes in this region and identified a missense mutation in the CRYBB3 gene (G165R; 123630.0001) ... In affected members of 2 consanguineous Pakistani families segregating nonsyndromic congenital cataract mapping to chromosome 22q11, Riazuddin et al. (2005) sequenced the beta-crystallin genes in this region and identified a missense mutation in the CRYBB3 gene (G165R; 123630.0001) (123630.0001) that cosegregated with the disease in both families. Molecular modeling predicted changes in electrostatic potential that would be expected to reduce the stability of the fourth Greek key motif, and hence the entire protein, dramatically.