Dyskeratosis congenita

Monica Bessler, David B. Wilson, Philip J. Mason

Research output: Contribution to journalReview articlepeer-review

54 Scopus citations

Abstract

Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure (BMF) syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short telomeres in highly proliferating tissues. With this new definition the disease spectrum has broadened and ranges from intrauterine growth retardation, cerebellar hypoplasia, and death in early childhood to asymptomatic mutation carriers whose descendants are predisposed to malignancy, BMF, or pulmonary disease. The degree of telomere dysfunction is the major determinant of disease onset and manifestations.

Original languageEnglish
Pages (from-to)3831-3838
Number of pages8
JournalFEBS Letters
Volume584
Issue number17
DOIs
StatePublished - Sep 2010

Keywords

  • Anticipation
  • Aplastic anemia
  • Dyskeratosis congenita
  • Pulmonary fibrosis
  • Telomerase
  • Telomere

Fingerprint

Dive into the research topics of 'Dyskeratosis congenita'. Together they form a unique fingerprint.

Cite this