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GENATLAS PHENOTYPE
last update : 17-10-2018
Symbol DKC8
Location 17p13.1
Name dyskeratosis congenita 8
Other name(s) bone marrow failure syndrome-5
Corresponding gene TP53
Other symbol(s) BMFS5
Main clinical features
  • inherited bone-marrow-failure syndromes, accompanied by hypogammaglobulinemia, growth retardation, and microcephaly, with increased risk of malignacy
  • also associated with reticular skin pigmentation, hypogonadism, and tooth anomalies
  • anemia did not respond to steroid therapy
    • Genetic determination
    Function/system disorder defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein mutation gain of function (PMID: 30146126)
    Remark(s)
  • variants were located in exon 10, resulting in the introduction of premature terminal codons in the last coding exon (exon 11) (PMID: 30146126))