Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome

Journal of Pediatric Hematology/Oncology

Volumn 28, Issue 7, 2006, Pages 450-453

  Field, Joshua J ^a   Mason, Philip J ^a   An, Ping ^a   Kasai, Yumi ^a   McLellan, Michael ^a   Jaeger, Sara ^a   Barnes, Yvonne J ^b   King, Allison A ^a   Bessler, Monica ^a   Wilson, David B ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

Aplastic anemia; Bone marrow failure; Dyskeratosis congenital

Indexed keywords

TELOMERASE;

APLASTIC ANEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; BONE MARROW DEPRESSION; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; DYSKERATOSIS CONGENITA; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33746374390     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/01.mph.0000212952.58597.84     Document Type: Article

References (18)

1. Greenberg RA. Telomeres, crisis, and cancer. Curr Mol Med. 2005;5:213-218.
2. Mason PJ, Wilson DB, Bessler M. Dyskeratosis congenita-a disease of dysfunctional telomere maintenance. Curr Mol Med. 2005;5:159-170.
3. Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001;413:432-435.
4. Vulliamy T, Marrone A, Szydloz R, et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet. 2004;36:447-449.
5. Yamaguchi H, Baerlocher G, Lansdorp P, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003;102:916-918.
6. Freedman MH. Inherited forms of bone marrow failure. In: Hoffman R, Benz EJ, Shattil SJ, et al. eds. Hematology Basic Principles and Practice. Philadelphia: Elsevier Churchill Livingstone; 2005:348-351.
7. Bessler M, Wilson DB, Mason PJ. Dyskeratosis congenita and telomerase. Curr Opin Pediatr. 2004;16:23-28.
8. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000;110:768-779.
9. Rocha V, Devergie A, Socie G, et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol. 1998;103:243-248.
10. Dror Y, Freedman MH, Leaker M, et al. Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. Bone Marrow Transplant. 2003;31:847-850.
11. Nobili B, Rossi G, De Stefano P, et al. Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. Br J Haematol. 2002;119:573-574.
12. Cossu F, Vulliamy TJ, Marrone A, et al. A novel DKC1 mutation, severe combined immunodeficiency (T + B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol. 2002;119:765-768.
13. Gungor T, Corbacioglu S, Strob R, et al. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of dyskeratosis congenita. Bone Marrow Transpl. 2003;31:407-410.
14. Wilson DB, Ivanovich J, Whelan A, et al. Human telomerase RNA mutations and bone marrow failure. Lancet. 2003;361:1993-1994.
15. Keith WN, Vulliamy T, Zhao J, et al. A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with paroxysmal nocturnal hemoglobinuria. BMC Blood Discord. 2004;4:3.
16. Marrone A, Stevens D, Vulliamy T, et al. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood. 2004;104:3936-3942.
17. Vulliamy T, Marrone A, Dokal I, et al. Association between aplastic anaemia and mutations in telomerase RNA. Lancet. 2002;359:2168-2170.
18. Ly H, Schertzer M, Jastaniah W, et al. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Blood. 2005;106:1246-1252.