title: The genetics of dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities. The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic basis of DC has established that the disease is caused by a number of genes, all of which encode products involved in telomere maintenance, either as part of telomerase or as part of the shelterin complex that caps and protects telomeres. There is overlap at the genetic and clinical levels with other, more common conditions, including aplastic anemia (AA), pulmonary fibrosis (PF), and liver cirrhosis. Although part of the spectrum of disorders known to be associated with DC, it has emerged that mutations in telomere maintenance genes can lead to the development of AA and PF in the absence of other DC features. Here we discuss the genetics of DC and its relationship to disease presentation.
authors.affiliation: Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, USA. masonp@email.chop.edu
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Mason
authors.forename: Monica
authors.initials: M
authors.lastname: Bessler
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000150:complications / Q000235:genetics* / Q000473:pathology; D050172:Genes, X-Linked; D006801:Humans; D008957:Models, Genetic; D018832:Molecular Chaperones; D009687:Nuclear Proteins / Q000235:genetics; D012313:RNA / Q000235:genetics; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D020718:Ribonucleoproteins, Small Nucleolar / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D034501:Telomere-Binding Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D018832:Molecular Chaperones; C416929:NHP2 protein, human; C416930:NOP10 protein, human; D009687:Nuclear Proteins; D017411:Ribonucleoproteins, Small Nuclear; D020718:Ribonucleoproteins, Small Nucleolar; C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase; C535133:WRAP53 protein, human