Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

Lancet

Volumn 362, Issue 9396, 2003, Pages 1628-1630

  Fogarty, Patrick F ^a   Yamaguchi, Hiroki ^a   Wiestner, Adrian ^a   Baerlocher, Gabriela M ^c   Sloand, Elaine ^a   Zeng, Weihua S ^a   Read, Elizabeth J ^b   Lansdorp, Peter M ^c,d   Young, Neal S ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c BRITISH COLUMBIA CANCER AGENCY   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; RNA; TELOMERASE; THROMBOPOIETIN;

ADULT; APLASTIC ANEMIA; ARTICLE; BLOOD CELL COUNT; BONE MARROW DEPRESSION; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DYSKERATOSIS CONGENITA; FAMILY HISTORY; FEMALE; HEMATOPOIETIC SYSTEM; HUMAN; HUMAN TISSUE; MALE; ONSET AGE; PANCYTOPENIA; PHYSICAL DISEASE; POINT MUTATION; PRIORITY JOURNAL; TELOMERE;

EID: 0344851536     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)14797-6     Document Type: Article

References (5)

1. Yamaguchi H., Baerlocher G.M., Lansdorp P.M., , et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 102:2003;916-918.
2. Heiss N.S., Knight S.W., Vulliamy T.J., , et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 19:1998;32-38.
3. Vulliamy T., Marrone A., Goldman F., , et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 413:2001;432-435.
4. Vulliamy T., Marrone A., Dokal I., Mason P.J. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 359:2002;2168-2170.
5. Brummendorf T.H., Maciejewski J.P., Mak J., Young N.S., Lansdorp P.M. Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood. 97:2001;895-900.