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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-10-2018
Symbol DKCB3
Location 17p13.1
Name dyskeratosis congenita-3, autosomal recessive
Corresponding gene WRAP53
Main clinical features
  • disorder of defective tissue maintenance, impaired stem cell function, and cancer predisposition with very short telomeres
  • leukoplakia, nail dystrophy, and reticular pigmentation, in the bone marrow as pancytopenia, and in the lung as pulmonary fibrosis, as well as in other tissues
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
  • WRAP53 mutations result in mislocalization of the telomerase complex without affecting telomerase activity