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Blood, 1 December 2004, Vol. 104, No. 12, pp. 3588-3590. Prepublished online as a Blood First Edition Paper on July 29, 2004; DOI 10.1182/blood-2004-04-1516. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: 2004-04-1516v1 104/12/3588    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Woloszynek, J. R. Articles by Link, D. C. Search for Related Content PubMed PubMed Citation Articles by Woloszynek, J. R. Articles by Link, D. C. Related Collections Hematopoiesis and Stem Cells Neoplasia Gene Expression Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS Brief report Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome Jill R. Woloszynek, Robert J. Rothbaum, Amy S. Rawls, Patrick J. Minx, Richard K. Wilson, Philip J. Mason, Monica Bessler, and Daniel C. Link From the Department of Medicine, Divisions of Oncology and Hematology, the Department of Pediatrics, Division of Pediatric Gastroenterology and Nutrition, and the Genome Sequencing Center, Washington University School of Medicine, St Louis, MO. Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS. Full-length SBDS protein was not detected in leukocytes of SDS patients with the most common SBDS mutations, consistent with a loss-of-function mechanism. In contrast, SBDS protein was expressed at normal levels in SDS patients without SBDS mutations. These data confirm the absence of SBDS mutations in this subgroup of patients and suggest that SDS is a genetically heterogeneous disorder. The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. A. Albrecht, S. W. Gorges, D. M. Styne, and A. A. Bremer Shwachman-Diamond Syndrome Presenting as Hypoglycemia Clinical Pediatrics, March 1, 2009; 48(2): 212 - 214. [PDF] A. Cretien, C. Hurtaud, H. Moniz, A. Proust, I. Marie, O. Wagner-Ballon, V. Choesmel, P.-E. Gleizes, T. Leblanc, J. Delaunay, et al. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia Haematologica, November 1, 2008; 93(11): 1627 - 1634. [Abstract] [Full Text] [PDF] G P Spickett Immune deficiency disorders involving neutrophils J. Clin. Pathol., September 1, 2008; 61(9): 1001 - 1005. [Abstract] [Full Text] [PDF] S. Brown and R Buchdahl Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test J R Soc Med, July 1, 2008; 101(Supplement_1): 39 - 42. [Full Text] [PDF] P. Rujkijyanont, K.-i. Watanabe, C. Ambekar, H. Wang, A. Schimmer, J. Beyene, and Y. 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Young Mutations in the SBDS gene in acquired aplastic anemia Blood, August 15, 2007; 110(4): 1141 - 1146. [Abstract] [Full Text] [PDF] H. Kawashima, M. Ushio, K. Aritaki, Y. Kashiwagi, C. Watanabe, S. Nishimata, K. Takekuma, A. Hoshika, H. Taneichi, and H. Kanegane Discordant Endocrinopathy in a Sibling with Shwachman-Diamond Syndrome J Trop Pediatr, December 1, 2006; 52(6): 445 - 447. [Full Text] [PDF] K. M. Austin, R. J. Leary, and A. Shimamura The Shwachman-Diamond SBDS protein localizes to the nucleolus Blood, August 15, 2005; 106(4): 1253 - 1258. [Abstract] [Full Text] [PDF] T. W. Kuijpers, M. Alders, A. T. J. Tool, C. Mellink, D. Roos, and R. C. M. Hennekam Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship Blood, July 1, 2005; 106(1): 356 - 361. [Abstract] [Full Text] [PDF] C. Shammas, T. F. Menne, C. Hilcenko, S. R. Michell, B. Goyenechea, G. R. B. Boocock, P. R. Durie, J. M. Rommens, and A. J. Warren Structural and Mutational Analysis of the SBDS Protein Family: INSIGHT INTO THE LEUKEMIA-ASSOCIATED SHWACHMAN-DIAMOND SYNDROME J. Biol. Chem., May 13, 2005; 280(19): 19221 - 19229. [Abstract] [Full Text] [PDF]

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