Warsaw breakage syndrome
Definition:
Warsaw breakage syndrome is a cohesinopathy characterized by cellular defects in sister chromatid cohesion and hypersensitivity to agents that induce replication stress. It is caused by defective DDX11/ChlR1, a XPD helicase family member. In Warsaw breakage syndrome, features of Fanconi anemia (chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation.
References:
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[1]. Petra van der Lelij, et al. 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. [Content Brief]
[2]. Yuliang Wu, et al. Biochemical characterization of Warsaw breakage syndrome helicase. J Biol Chem. 2012 Jan 6;287(2):1007-21. [Content Brief]
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