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GENATLAS PHENOTYPE
last update : 25/09/2011
Symbol KTCN1
Location 20p11.21
HGNC id 12723
Name keratoconus 1
Corresponding gene VSX1
Other symbol(s) KRTC
Main clinical features
  • characterized by a non inflammatory progressive degeneration of cornea
  • disorder in which the cornea thins and changes shape, progressive thinning and protrusion of the cornea and loss of acuity
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name visual system homeobox 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown VSX1 Q175H mutation may be a pathogenic variant with incomplete penetrance and affects the DNA binding properties of the protein
    Remark(s)
    Genotype/Phenotype correlations pter - D20S486 - D20S844 - VSX1 - D20S191 - cen