| First Author | van der Lelij P | Year | 2010 |
| Journal | Am J Hum Genet | Volume | 86 |
| Issue | 2 | Pages | 262-6 |
| PubMed ID | 20137776 | Mgi Jnum | J:158636 |
| Mgi Id | MGI:4439253 | Doi | 10.1016/j.ajhg.2010.01.008 |
| Citation | van der Lelij P, et al. (2010) Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet 86(2):262-6 |
| abstractText | 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. |
