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GENATLAS PHENOTYPE
last update : 26-11-2020
Symbol CORD14
Location 6p21.1
Name retinal cone-rod dystrophy 14
Other name(s) cone dystrophy 3
Corresponding gene GUCA1A
Other symbol(s) COD3, RCD1
Main clinical features
  • characterized by progressive photophobia, decreased central vision and dyschromatopsia, reduced visual acuity between the ages of 20 and 40 years
    • . at ERG, significant generalized loss of cone function as shown by reduction in photopic electroretinograms, and central retinal involvement as shown by reduction in pattern ERGs
    Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name guanylate cyclase activator 1A (GUCA1A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     I143NT, destroying foveal cones by mid-life but sparing some cones in the peripheral retina
    missense   abnormal protein/gain of function L151F, affecting the EF hand motif 4 (EF4)
    Remark(s)
  • mutants were able to act as a Ca2+-sensor protein, but they differed in their Ca2+-dependent activation profiles leading to a persistent stimulation of guanylate cyclase activities at physiological intracellular Ca2+ concentration (Kitiratschky 2009)