| A novel mutation in a family with DNA ligase IV deficiency syndrome. | |
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MedLine Citation:
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PMID: 19418549 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining. Herein, we report two siblings with LIG4 syndrome with a novel mutation. One of the siblings, who had normocellular marrow, had autologous reconstitution after initial non-myeloablative conditioning and underwent successful second hematopoietic stem cell transplantation after conditioning with busulfan, cyclophosphamide, and anti-thymocyte globulin. Our findings indicate that transplantation with myeloablative conditioning can be used successfully in LIG4 syndrome patients. |
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Authors:
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Sule Unal; Karen Cerosaletti; Duygu Uckan-Cetinkaya; Mualla Cetin; Fatma Gumruk |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 53 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-07-20 Completed Date: 2009-07-31 Revised Date: 2009-09-25 |
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: 482-4 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Division of Pediatric Hematology, Faculty of Medicine, Department of Pediatrics, Hacettepe University, 06100 Sihhiye, Ankara, Turkey. suleunal@hacettepe.edu.tr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child DNA Ligases / deficiency*, genetics* Female Humans Mutation* Syndrome |
| Chemical | |
Reg. No./Substance:
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EC 6.5.1.-/DNA Ligases; EC 6.5.1.1/DNA ligase (ATP) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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