2. Academic Validation
  3. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1

  • Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008.
Petra van der Lelij 1,  Krystyna H Chrzanowska,  Barbara C Godthelp,  Martin A Rooimans,  Anneke B Oostra,  Markus Stumm,  Małgorzata Z Zdzienicka,  Hans Joenje,  Johan P de Winter
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, Amsterdam, The Netherlands.
PMID: 20137776 DOI: 10.1016/j.ajhg.2010.01.008
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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