Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Nat Genet. 2004 May;36(5):447-9. doi: 10.1038/ng1346. Epub 2004 Apr 18.


Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dyskeratosis Congenita / diagnosis
  • Dyskeratosis Congenita / genetics*
  • Family
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • RNA / genetics*
  • Sequence Deletion
  • Telomerase / genetics*
  • Telomere / genetics*


  • telomerase RNA
  • RNA
  • Telomerase