| Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes. | |
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MedLine Citation:
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PMID: 22201559 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Thrombocytopenia-absent-radius (TAR) syndrome is a rare condition characterized by thrombocytopenia and bilateral absence of the radii with presence of both thumbs. The phenotype has a variable expression. A 200 kb minimal deletion at 1q21.1 is present in all patients. However, the microdeletion, ranging up to 1100 kb in length, is not sufficient to cause the disease. Indeed it is present in 75-80% of unaffected parents. It is assumed that the phenotype develops only in the presence of one or more additional, as-yet-unknown, deletion modifiers (mTARs). We report here on a child affected by TAR syndrome associated with Langerhans cell histiocytosis. Unexpectedly, he showed a 2.029 kb deletion at 1q21.1, almost twice that of the unaffected mother (957 kb). Interestingly, the mother-to-son increased size of the deleted region was already observed in two cases of constitutional diseases, although both resulting as chromosomal terminal deletions. Noteworthy, qPCR experiments, never before performed for patients with TAR syndrome, disclosed that the proband had a statistically significant downregulation of the majority of the genes mapping inside the part of the deletion shared with the mother. The mother on the contrary, did not show the same downregulation. In summary, the present report adds new insights on the pathogenesis of TAR syndrome, that may represent fruitful directions for future research. |
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Authors:
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Maria Corsignano Guastadisegni; Roberta Roberto; Alberto L'abbate; Orazio Palumbo; Massimo Carella; Lucia Giordani; Valerio Cecinati; Paola Giordano; Clelia Tiziana Storlazzi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-8 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Masson SAS. |
Affiliation:
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Department of Biology, University of Bari, Bari, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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