A Roberts Syndrome individual with differential genotoxin sensitivity and a DNA damage response defect

Roberts Syndrome (RBS) is a rare recessively-transmitted developmental disorder characterized by growth retardation, craniofacial abnormalities and truncation of limbs. All affected individuals to date have mutations in the ESCO2 (Establishment of cohesion 2) gene, a key regulator of the cohesin complex, which is involved in sister chromatid cohesion and DNA double-strand break (dsb) repair. Here we characterize DNA damage responses (DDRs) for the first time in a RBS-affected family.

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