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GENATLAS PHENOTYPE
last update : 17-10-2018
Symbol DKC1
Location Xq28
Name dyskeratosis congenita
Other name(s)
  • Zinsser-Cole-Engman syndrome
  • Hoyeraal-Hreidarsson syndrome
    • Corresponding gene DKC1
    Other symbol(s) HHS
    Main clinical features
  • characterized by early reticulate skin pigmentation, nail dystrophy, mucosal leukoplakia and progressive bone-marrow failure
  • bone marrow failure syndrome characterized by the cutaneous triad of nail dystrophy, abnormal skin pigmentation and mucosal leukoplakia, causing premature death due to aplastic anemia; patient cells show short telomeres, and a translational dysfunction in TP53 expression may promote cancer initiation even in the context of telomere shortening (PMID: 20453831))
    • Genetic determination sex linked
    Related entries . including any form of Bloch Sulzberger incontinentia pigmenti and an increased susceptibility to a range of malignancies
    Function/system disorder dermatology
    Type disease
    Gene product
    Name dyskerin (DKC)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other     A353V observed in 30p100 of the cases, compromising telomerase function leading to a defect in telomere maintenance and to a dramatically reduced telomere lengths
    missense     A386T impairing control of IRES-mediated translation
    Remark(s)
  • mutation inactivating dyskerin, destabilizes the levels of TERC, resulting in shortened telomeres and premature senescence in patient cell line (Agarwal 2010)
  • mutations in dyskerin, NHP2 and NOP10 caused different defects in the assembly of H/ACA pre-RNPs (Trahan 2010)