Recent progress in dyskeratosis congenita

Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1.


Dyskeratosis congenita (DC) is an inherited disease associated with nail dystrophy, abnormal skin pigmentation, oral leukoplakia, bone marrow failure and a predisposition to cancer. DC is a disease of defective telomere maintenance and patients with DC have very short telomeres. To date, mutations in six genes of telomerase and telomere components have been identified in patients with DC. Recently, mutations in telomerase and telomere components were also identified in patients with aplastic anemia, pulmonary fibrosis, and liver diseases who did not have mucocutaneous manifestations. These findings imply that defective telomere maintenance may cause not only classical DC but also a broad spectrum of diseases previously thought to be idiopathic, and have led to a new concept of diseases, termed "syndromes of telomere shortening". An understanding of the role of telomeres in these diseases is indispensable for diagnosis, genetic counseling and clinical management.

Publication types

  • Review

MeSH terms

  • Animals
  • Bone Marrow Diseases / genetics
  • Bone Marrow Diseases / therapy
  • Dyskeratosis Congenita / diagnosis
  • Dyskeratosis Congenita / genetics*
  • Dyskeratosis Congenita / physiopathology
  • Dyskeratosis Congenita / therapy*
  • Humans
  • Mutation
  • Telomere / genetics
  • Telomere / pathology*