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GENATLAS PHENOTYPE
last update : 10-11-2009
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 product
    Name crystallin, alpha A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    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))