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
|