Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20137776.
- Also identified by DOI 10.1016/j.ajhg.2010.01.008 and PMC identifier 2820174.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Breakage
- DEAD-box RNA Helicases
- DNA Helicases
- Mutation
- Sister Chromatid Exchange
- Xeroderma Pigmentosum