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Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 |
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| Authors: | Petra van der Lelij Krystyna H. Chrzanowska Barbara C. Godthelp Martin A. Rooimans Anneke B. Oostra Markus Stumm Ma?gorzata Z. Zdzienicka Hans Joenje Johan P. de Winter |
| Affiliation: | 1 Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands 2 Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland 3 Department of Toxicogenetics, Leiden University Medical Center, Einthovenweg 20, NL-2333 ZC Leiden, The Netherlands 4 Institute of Human Genetics, Otto-von-Guericke-University, Leipziger Straße 44, D-39120 Magdeburg, Germany 5 Department of Molecular Cell Genetics, Nicolaus Copernicus University, Collegium Medicum, Sklodowska-Curie 9, 85-094 Bydgoszcz, Poland |
| Abstract: | 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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