Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Nijmegen Breakage Syndrome

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4086-2

Synonyms

Definition

Nijmegen breakage syndrome is a genetic disease characterized by an extreme sensitivity toward ionizing radiation and a high risk for the development of lymphatic tumors.

Characteristics

Nijmegen breakage syndrome (NBS) is a rare genetic disease; inheritance follows an autosomal recessive modus with complete penetrance. Although the birth weight and size of homozygotes are normal, microcephaly and growth retardation soon become apparent and are major symptoms of the disorder. Progressive mental retardation is typical; however, IQ is usually within the normal range during early childhood. A sloping forehead and receding mandible give NBS patients a characteristic facial appearance which becomes more pronounced with age. NBS patients are immunodeficient in both cellular and humoral immune systems leading to frequent infections particularly of the respiratory tract....

Keywords

Cell Cycle Checkpoint Ataxia Telangiectasia Patient Cell Nijmegen Breakage Syndrome Autosomal Recessive Modus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. (2012) Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 7:13. doi:10.1186/1750-1172-7-13Google Scholar
  2. Demuth I, Frappart PO, Hildebrand G et al (2004) An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet 13:2385–2397CrossRefPubMedGoogle Scholar
  3. Digweed M, Reis A, Sperling K (1999) Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. Bioessays 21:649–656CrossRefPubMedGoogle Scholar
  4. Steffen J, Varon R, Mosor M et al (2004) Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer 111:67–71CrossRefPubMedGoogle Scholar
  5. Varon R, Vissinga C, Platzer M et al (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467–476CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Institute of Medical and Human GeneticsCharité – Universitätsmedizin BerlinBerlinGermany