Radiation Oncology/Cancer Syndromes/Nijmegen Breakage Syndrome-Like Disorder

Nijmegen Breakage Syndrome-Like Disorder

  • Low levels of unstable RAD50 protein; part of MRN complex involved in DNA double-strand break recognition and repair
  • Microcephaly, mental retardation, "bird-like" face, short stature
  • 1 individual reported to-date
  • Sensitivity to ionizing radiation

  • Hannover; 2009 PMID 19409520 -- "Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder." (Waltes R, Am J Hum Genet. 2009 May; 84(5):605-16.)
    • Case report of patient with NBSLD