Table 1 of Meyer, Mol Vis 2009; 15:1014-1019. Table 1 of Meyer, Mol Vis 2009; 15:1014-1019.
Table 1. Known mutations in CRYBB1 in association with isolated congenital cataract.
| Inheritance | Phenotype | Mutation: protein-level | Exon | Reference |
|---|---|---|---|---|
| Autosomal dominant | bilateral,
pulverulent, affected fetal nucleus, cortex and anterior and posterior Y-suture region |
G220X → truncated βB1-crystallin → partial loss of 4. Greek-key motif |
6 | [13] |
| Autosomal dominant | dense
nuclear with cortical riders and anterior and posterior polar opacities and microcornea |
X253R → elongation of COOH-terminus → disruption of β-crystallin interactions |
6 | [4] |
| Autosomal dominant | bilateral nuclear cataract | S228P → disturb consecutive β-sheet and make a β-turn |
6 | [14] |
| Autosomal dominant | bilateral, disc-like opacities in central nucleus region | Q223X → truncated βB1-crystallin → partial loss of 4. Greek-key motif |
6 | [15] |
| Autosomal recessive | bilateral confluent nuclear opacification | N58Tfs106 → abrogates protein very near to NH2-terminus |
2 | [16] |
| Autosomal recessive | bilateral, mild nuclear pulverulent cataract | M1K → abrogates initiation codon |
2 | current study |