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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 (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 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 Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted April 20, 2004 Accepted July 18, 2004 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* Department of Medicine, Washington University, St. Louis, MO, USA Department of Pediatrics, Washington University, St. Louis, MO, USA Genome Sequencing Center, Washington University, St. Louis, MO, USA * Corresponding author; email: dlink{at}im.wustl.edu. 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 that 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. 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