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. Epub 2010 Feb 4.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / enzymology*
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Base Sequence
  • Child, Preschool
  • Chromosome Breakage*
  • DEAD-box RNA Helicases / deficiency
  • DEAD-box RNA Helicases / genetics*
  • DNA Helicases / deficiency
  • DNA Helicases / 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*


  • DNA Helicases
  • DDX11 protein, human
  • DEAD-box RNA Helicases