Journal
CANCER GENETICS
Volume 204, Issue 12, Pages 635-645Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2011.11.002
Keywords
Bone marrow failure; telomerase; dyskerin; short telomeres; anticipation
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Funding
- Buck Family Endowed Chair in Hematology
- NCI NIH [2R01CA106995, 2R01 CA105312]
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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.
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