The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome

Oncogene. 2007 Dec 10;26(56):7792-8. doi: 10.1038/sj.onc.1210876.

Abstract

The autosomal recessive genetic disorder Nijmegen breakage syndrome (NBS) was first described in 1981 in patients living in Nijmegen, Holland. NBS patients display a characteristic facial appearance, microcephaly and a range of symptoms including immunodeficiency, increased cancer risk and growth retardation. In addition, NBS patient cells were found to have elevated levels of chromosomal damage and to be sensitive to ionizing irradiation (IR). This radiosensitivity had fatal consequences in some undiagnosed patients. The most dangerous DNA lesion caused by IR is considered to be the double-strand break (DSB) and indeed, NBS patient cells are sensitive to all mutagens that produce DSBs directly or indirectly. We discuss here our current understanding of how a deficiency in DSB repair manifests as the particular symptom complex of NBS.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Cycle Proteins / genetics*
  • DNA Breaks, Double-Stranded*
  • Humans
  • Nijmegen Breakage Syndrome / genetics*
  • Nijmegen Breakage Syndrome / pathology

Substances

  • Cell Cycle Proteins