(a) Mapped loci for human autosomal dominant congenital cataract, (b) identified human congenital cataract mutations
(a) | ||||
---|---|---|---|---|
Phenotype | Locus | Inheritance | Reference | |
Volkmann (pulverulent) | 1p36 | AD | 20 | |
Posterior polar | 1p36 | AD | 12 | |
Nuclear | 12q12-14.1 | AD | 21 | |
Anterior polar | 14q24 | Translocation | 22 | |
Unknown | 16p13.3 | Translocation | 23 | |
Marner | 16q22.1 | AD | 24 | |
Posterior polar | 16q22.1 | AD | 24 | |
Anterior polar | 17p13 | AD | 25 | |
Zonular sutural (lamellar) | 17q11-12 | AD | 26 | |
Cerulean | 17q24 | AD | 27 | |
Unknown | I-blood group locus | AR | 28 | |
Sutural (lamellar) | Xpter-Xqter | XR | 29 30 31 | |
(b) | ||||
Locus | Gene | Protein | Mutation | Reference |
1q21-q25 | GJA8 | Connexin 50 | missense | 7 |
2q33-q35 | CRYGD | γD crystallin | missense | 32 |
2q33-q35 | CRYGC | γC crystallin | missense | 33 |
10q24-25 | PITX3 | Pitx3 | missense | 34 |
12q14 | MIP | MIP/AQP0 | missense | 10 |
13q11-q13 | CX46 | Connexin 46 | missense | 9 |
17q11.1-q12 | CRYBA1 | BA1, crystallin | splice site | 26 |
21q22.3 | CRYAA | α crystallin | missense | 5 |
22q11.2 | CRYBB2 | β crystallin | chain termination | 35 |
22q11.2 | CRYBB2 | β crystallin | missense | 36 |