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Semin Hematol. 2006 Jul;43(3):157-66.

Dyskeratosis congenita.

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1
Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK. t.vulliamy@imperial.ac.uk

Abstract

Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is classically characterized by mucocutaneous features, the vast majority of patients develop hematologic abnormalities, and in its occult form the disease can present as aplastic anemia. The gene responsible for the X-linked form of the disease encodes a protein involved in ribosome biogenesis and in stabilizing the telomerase complex, while the autosomal dominant form is caused by mutations in the core RNA component of telomerase. It has been suggested that DC is primarily a disease of defective telomere maintenance. Premature shortening of telomeres resulting in a limited proliferative potential of stem cells would explain the pathology observed in DC, as the affected tissues are those that require constant renewal.

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