Dyskeratosis congenita

Cell Mol Life Sci. 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042.


Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Mutations in DKC1 mainly lead to amino acid substitutions. The autosomal dominant form of the disease is due to mutations in hTR, the RNA component of telomerase, making it likely that the disease is due to defective telomerase activity. Mutations in hTR are predicted to either disrupt secondary structure or alter the template region. The gene or genes involved in the recessive forms of the disease remain elusive, though genes whose products are required for telomere maintenance are strong candidates.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cell Cycle Proteins / genetics
  • Chromosome Mapping
  • Chromosomes, Human, X
  • Dyskeratosis Congenita / diagnosis
  • Dyskeratosis Congenita / genetics*
  • Dyskeratosis Congenita / physiopathology
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Male
  • Mice
  • Mutation
  • Nuclear Proteins / genetics
  • Pedigree
  • Telomerase / genetics
  • Telomerase / metabolism


  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins
  • Telomerase