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Blood, 8 January 2009, Vol. 113, No. 2, pp. 309-316. Prepublished online as a Blood First Edition Paper on October 17, 2008; DOI 10.1182/blood-2008-07-166421. This Article Full Text (PDF) Supplemental Tables and Figures All Versions of this Article: blood-2008-07-166421v1 113/2/309    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 Du, H.-Y. Articles by Bessler, M. Search for Related Content PubMed PubMed Citation Articles by Du, H.-Y. Articles by Bessler, M. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted July 9, 2008 Accepted September 21, 2008 TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements Hong-Yan Du, Elena Pumbo, Jennifer Ivanovich, Ping An, Richard T Maziarz, Ulrike M Reiss, Deborah Chirnomas, Akiko Shimamura, Adrianna Vlachos, Jeffrey M Lipton, Rakesh K Goyal, Frederick Goldman, David B Wilson, Philip J Mason, and Monica Bessler* Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, United States Department of Surgery, Washington University School of Medicine, St. Louis, MO, United States Department of Genetics, Washington University School of Medicine, St. Louis, MO, United States Division of Hematology, Oregon Health & Science University, Portland, OR, United States St. Jude Children's Research Hospital, Memphis, TN, United States Department of Hematology, Children's Hospital Boston, Boston, MA, United States The Feinstein Institute for Medical Research, Schneider Children's Hospital, Albert Einstein College of Medicine, New Hyde Park, NY, United States Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA, United States Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States * Corresponding author; email: mbessler{at}dom.wustl.edu. Dyskeratosis congenita (DC) is a rare inherited form of bone marrow failure (BMF) caused by mutations in telomere maintaining genes including TERC and TERT. Here we studied the prevalence of TERC and TERT gene mutations and of telomere shortening in an unselected population of patients with BMF at our medical center and in a selected group of patients referred from outside institutions. Less than 5% of patients with BMF had pathogenic mutations in TERC or TERT. In patients with BMF, pathogenic TERC or TERT gene mutations were invariably associated with marked telomere shortening (<< 1st percentile) in peripheral blood mononuclear cells (PBMCs). In asymptomatic family members, however, telomere length was not a reliable predictor for the presence or absence of a TERC or TERT gene mutation. Telomere shortening was not pathognomonic of DC as about 30% of patients with BMF due to other causes had PBMC telomere lengths 1st percentile. We conclude that in the setting of BMF measurement of telomere length is a sensitive but nonspecific screening method for DC. In the absence of BMF, telomere length measurements should be interpreted with caution. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: K. E. Nichols and M. Bessler Cancer & inherited bone marrow failure states Blood, June 25, 2009; 113(26): 6502 - 6503. [Full Text] [PDF] J. R. Passweg and A. Tichelli Immunosuppressive treatment for aplastic anemia: are we hitting the ceiling? Haematologica, March 1, 2009; 94(3): 310 - 312. [Full Text] [PDF]

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