RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.

ABSTRACT: Cellular DNA double-strand break-repair pathways have evolved to protect the integrity of the genome from a continual barrage of potentially detrimental insults. Inherited mutations in genes that control this process result in an inability to properly repair DNA damage, ultimately leading to developmental defects and also cancer predisposition. Here, we describe a patient with a previously undescribed syndrome, which we have termed RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features and learning difficulties), whose cells lack an ability to recruit 53BP1 to sites of DNA double-strand breaks. As a consequence, cells derived from this patient exhibit a hypersensitivity to ionizing radiation, cell cycle checkpoint abnormalities, and impaired end-joining in the recombined

SUBMITTER: Stewart GS 

PROVIDER: S-EPMC2040433 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature