Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterised by short stature, progressive
microcephaly with loss of cognitive skills, ovarian failure in females and immunodeficiency. NBS is also associated with an
increased risk of cancer, particularly lymphomas. Mutations of the NBS1 gene are detected in nearly all patients.
International NBS Study Group Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child 2000 May;82(5):400-6 Related articles (PubMed)
Varon R, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998 May 1;93(3):467-76 Related articles (PubMed)
Cerosaletti KM, et al. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am J Hum Genet 1998 Jul;63(1):125-34 Related articles (PubMed)
van der Burgt I, et al. Nijmegen breakage syndrome. [Review] J Med Genet 1996;33(2):153-6 Related articles (PubMed)
Weemaes CM, et al. Nijmegen Breakage syndrome: a progress report. [Review] Int J Radiat Biol 1994;66(6 Suppl):S185-8 Related articles (PubMed)
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- Related Resources
- Nijmegen Breakage Syndrome (University of Washington) part of the NCI funded Geneclinics.org site. Details of NBS, diagnosis, management, molecular biology, genetic counseling, resources, references etc.
- Nijmegen Breakage Syndrome Mutation Database (Virginia Mason Research Center, Washington, USA) includes information about NBS, references, tables of NBS1 gene mutations detected in NBS patients and a table of NBS1 polymorphisms/variants in non-NBS patients.
- Nijmegen Breakage syndrome (Online Mendelian Inheritance in Man, National Center for Biotechnology Information, USA)
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NBS1; Nijmegen breakage syndrome 1 (nibrin) (8q21)
