| Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. | |
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MedLine Citation:
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PMID: 20137776 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated with a unique cellular phenotype in which features of Fanconi anemia (drug-induced chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist. The DDX11-deficient patient represents another cohesinopathy, besides Cornelia de Lange syndrome and Roberts syndrome, and shows that DDX11 functions at the interface between DNA repair and sister chromatid cohesion. |
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Authors:
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Petra van der Lelij; Krystyna H Chrzanowska; Barbara C Godthelp; Martin A Rooimans; Anneke B Oostra; Markus Stumm; Małgorzata Z Zdzienicka; Hans Joenje; Johan P de Winter |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-02-04 |
Journal Detail:
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Title: American journal of human genetics Volume: 86 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-17 Completed Date: 2010-03-19 Revised Date: 2010-09-28 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 262-6 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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enzymology*,
genetics* Adolescent Base Sequence Child, Preschool Chromosome Breakage* DEAD-box RNA Helicases / deficiency, genetics* DNA Helicases / deficiency, genetics* DNA Mutational Analysis Female Humans Infant Infant, Newborn Male Molecular Sequence Data Mutation / genetics* Neoplasms / genetics Pedigree Phenotype Poland Pregnancy Sister Chromatid Exchange / genetics* Syndrome Xeroderma Pigmentosum / genetics* |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/DDX11 protein, human; EC 3.6.1.-/DEAD-box RNA Helicases; EC 3.6.1.-/DNA Helicases |
| Comments/Corrections | |
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