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GENATLAS PHENOTYPE
last update : 17-10-2018
Symbol DKC3
Location 5p15.33
Name dyskeratosis congenita 3
Other name(s)
  • Dyskeratosis congenita, autosomal recessive 4
  • Dyskeratosis congenita, autosomal dominant 2
    • Corresponding gene TERT
    Other symbol(s) DKCA2, DKCB4
    Main clinical features
  • progressive bone marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia, and nail dystrophy, associated to idiopathic pulmonary fibrosis and an increased cancer predisposition
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder dermatology
    hematology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency a null mutation in motif D of the reverse transcriptase domain associated with haploinsufficiency of telomerase, and telomere shortening leading to anticipation
    Remark(s)