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- Title
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
- Authors
Varon, Raymonda; Seemanova, Eva; Chrzanowska, Krystyna; Hnateyko, Oleg; Piekutowska-Abramczuk, Dorota; Krajewska-Walasek, Malgorzata; Sykut-Cegielska, Jolanta; Sperling, Karl; Reis, André
- Abstract
Nijmegen breakage syndrome (NBS) is a chromosomal instability disorder, clinically characterised by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to lymphoid malignancy. Recently, it was demonstrated that mutations in the NBS1 gene are responsible for NBS. Most of the NBS patients known so far are of Slav origin and carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. In this study we estimated the prevalence of the 657del5 mutation in the Czech Republic, Poland and the Ukraine. We found an unexpectedly high carrier frequency of the 657del5 mutation (1/177) in the three Slav populations, a factor that may contribute to cancer frequency in those countries. In addition, we show that NBS patients are often diagnosed late and therefore receive inappropriate therapy.
- Subjects
CHROMOSOME abnormalities; GENETIC mutation; POPULATION genetics
- Publication
European Journal of Human Genetics, 2000, Vol 8, Issue 11, p900
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5200554