Dyskeratosis congenita.
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.
Bessler
Monica
M
Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA. besslerm@email.chop.edu
Wilson
David B
DB
Mason
Philip J
PJ
D000328:Adult; D000368:Aged; D000375:Aging / Q000502:physiology; D001853:Bone Marrow / Q000473:pathology; D002455:Cell Division / Q000235:genetics; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000473:pathology; D030342:Genetic Diseases, Inborn / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics; D000089804:Shelterin Complex; D019098:Telomerase / Q000235:genetics / Q000378:metabolism; D016615:Telomere / Q000235:genetics* / Q000648:ultrastructure; D034501:Telomere-Binding Proteins / Q000235:genetics
D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins; D019098:Telomerase