| T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. | |
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MedLine Citation:
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PMID: 20806366 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL. |
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Authors:
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Mwe Mwe Chao; Matthew A Todd; Udo Kontny; Katherine Neas; Michael J Sullivan; Alasdair G Hunter; David J Picketts; Christian P Kratz |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 55 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-08-31 Completed Date: 2010-09-27 Revised Date: 2011-10-03 |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 722-4 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Wiley-Liss, Inc. |
Affiliation:
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Division of Pediatric Hematology-Oncology, Children's National Medical Center, Washington, District of Columbia, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Carrier Proteins
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genetics* Child Humans Male Mental Retardation, X-Linked / genetics* Mutation* Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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//Canadian Institutes of Health Research |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/PHF6 protein, human |
| Comments/Corrections | |
Comment In:
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Pediatr Blood Cancer. 2010 Oct;55(4):595-6
[PMID:
20589626
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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