| Symbol
| ADCC1
|
| Location
| 21q22.3
|
| Name
|
congenital cataract, zonular central nuclear 1 |
| Corresponding gene
|
CRYAA
|
| Main clinical features
|
cataract associated with microcornea, and/or corneal opacity, congenital progressive |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| eye |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
|
| C>T transition in CRYAA gene leading to R116C substitution
| |
| Remark(s)
|
altered heat-shock response of mutant cells suggested a change of chaperoning capacity and networking, which could be associated with the pathogenesis of hereditary cataract-microcornea syndrome (Zhang 2009)
mutation of CRYAA induces activation of the unfolded protein response (UPR) during cataract formation (UPR is an important mediator of cell death observed in homozygous alphaαA-R49C lenses) (PMID: 20833134)) |