TERC mutations in children with refractory cytopenia

Haematologica

Volumn 91, Issue 5, 2006, Pages 707-708

  Ortmann, Christina A ^a   Niemeyer, Charlotte M ^a   Wawer, Angela ^b   Ebell, Wolfram ^c   Baumann, Irith ^d   Kratz, Christian P ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c HUMBOLDT UNIVERSITY   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Bone marrow failure; Dyskeratosis congenita; Myelodysplastic syndrome; Refractory cytopenia; Telomerase RNA

Indexed keywords

HEMOGLOBIN; RNA; TELOMERASE;

ADOLESCENT; ARTICLE; BONE MARROW BIOPSY; BONE MARROW DEPRESSION; CHILD; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; FEMALE; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MYELODYSPLASTIC SYNDROME; NEWBORN; PEDIGREE ANALYSIS; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; THROMBOCYTOPENIA;

ADOLESCENT; ANEMIA, APLASTIC; BLOOD TRANSFUSION; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DYSKERATOSIS CONGENITA; FATAL OUTCOME; FEMALE; GENES, DOMINANT; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; MALE; MYELODYSPLASTIC SYNDROMES; POINT MUTATION; RNA; TELOMERASE; THROMBOCYTOPENIA;

EID: 33744472191     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
2. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002;359:2168-70.
3. Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003;102:916-8.
4. Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 2003;362:1628-30.
5. Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia 2003;17:277-82.
6. Ly H, Blackburn EH, Parslow TG. Comprehensive structure-function analysis of the core domain of human telomerase RNA. Mol Cell Biol 2003;23:6849-56.
7. Keith WN, Vulliamy T, Zhao J, Ar C, Erzik C, Bilsland A, et al. A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with paroxysmal nocturnal haemoglobinuria. BMC Blood Disord 2004;4:3.
8. Wilson DB, Ivanovich J, Whelan A, Goodfellow PJ, Bessler M. Human telomerase RNA mutations and bone marrow failure. Lancet 2003;361:1993-4.
9. Calado RT, Pintao MC, Silva WA Jr, Falcao RP, Zago MA. Aplastic anaemia and telomerase RNA mutations. Lancet 2002;360:1608.
10. Ohyashiki K, Shay JW, Ohyashiki JH. Lack of mutations of the human telomerase RNA gene (hTERC) in myelodysplastic syndrome. Haematologica 2005;90:691.