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GENATLAS PHENOTYPE
last update : 25-10-2018
Symbol CPC
Location 3q27.3
Name progressive polymorphic cortical cataract
Corresponding gene CRYGS
Other symbol(s) CTRCT20
Main clinical features
  • cataract progressive, beginning between 8 and15 years, located in the anterior, posterior or peripheral cortex
    • Genetic determination autosomal dominant
    Related entries including also pulverulent cataracts (PMID: 24328668)
    Function/system disorder eye
    Type disease
    Gene product
    Name crystallin, gamma S
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown G18V disrupting the morphology and organisation of cortical fibre cells
    Remark(s) . aberrant modifications in CRYGS structure might contribute to the lower stability and higher aggregatory potency of the mutated protein, which subsequently resulted in cataracts in the patients (PMID: 29857103))