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Prepublished online as a Blood First Edition Paper on April 3, 2003; DOI 10.1182/blood-2003-01-0335. This Article Full Text (PDF) All Versions of this Article: 2003-01-0335v1 102/3/916    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Yamaguchi, H. Articles by Young, N. S Search for Related Content PubMed PubMed Citation Articles by Yamaguchi, H. Articles by Young, N. S Social Bookmarking                   What's this? Submitted February 3, 2003 Accepted March 22, 2003 Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome Hiroki Yamaguchi, Gabriela M Baerlocher, Peter M Lansdorp, Stephen J Chanock, Olga Nunez, Elaine Sloand, and Neal S Young* Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA Terry Fox Laboratory, BC Cancer Research Center, Vancouver, BC, Canada Department of Medicine, University of British Columbia, Vancouver, BC, Canada Section on Genomic Variation, Pediatric Oncology Branch, National Cancer Institutes, Advanced Technology Center, Gaithersburg, MD, USA * Corresponding author; email: youngn{at}nhlbi.nih.gov. Mutations in the human telomerase RNA (TERC) occur in the autosomal dominant form of dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only three of a total of 210 cases showed heterozygous TERC mutations: both n305 (G-A) and n322 (G-A) were within the CR4-CR5 domain; n450 (G-A) was localized to the boxH/ACA domain. However, the clinical characteristics of only one patient (with a mutation at n305 (G-A)) suggested DKC; her blood cells contained short telomeres and her sister also suffered from bone marrow failure. Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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