Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear and pulverulent. Autosomal dominant and autosomal recessive forms have been described.
The preferred title/symbol for ... Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear and pulverulent. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.'
Mackay et al. (2002) studied 8 affected members in 4 generations of a family segregating pulverulent cataract. The cataract was bilateral in all cases and consisted of fine, dust-like opacities that affected mainly the central zone, or fetal ... Mackay et al. (2002) studied 8 affected members in 4 generations of a family segregating pulverulent cataract. The cataract was bilateral in all cases and consisted of fine, dust-like opacities that affected mainly the central zone, or fetal nucleus, of the lens but also affected the cortex and the anterior and posterior Y-suture regions. Opacities were present from birth. There was no family history of other ocular or systemic abnormalities. Cohen et al. (2007) studied 2 extended unrelated consanguineous inbred Bedouin families from southern Israel presenting with autosomal recessive congenital nuclear cataract.
In affected members of a family segregating autosomal dominant pulverulent cataract, Mackay et al. (2002) identified heterozygosity for a nonsense mutation in the CRYBB1 gene (G220X; 600929.0001).
In affected members of 2 unrelated consanguineous Bedouin families ... In affected members of a family segregating autosomal dominant pulverulent cataract, Mackay et al. (2002) identified heterozygosity for a nonsense mutation in the CRYBB1 gene (G220X; 600929.0001). In affected members of 2 unrelated consanguineous Bedouin families segregating congenital nuclear cataract, Cohen et al. (2007) identified the same homozygous mutation in exon 2 of the CRYBB1 gene (168delG; 600929.0002). The parents of those affected were heterozygous for the mutation, which was not found in 100 Bedouin control individuals.