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Lookup NU author(s): Professor Andrew GenneryORCiD, Professor Mary Slatter, Shaun Haigh, Dr Mario Abinun, Dr Terence Flood, Professor Andrew Cant
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Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental abnormalities, growth retardation, progressive bone marrow failure, pancytopenia, and pronounced cancer predisposition. Nijmegen Breakage Syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental delay, microcephaly, and cancer predisposition. The diagnosis has relied on chromosomal instability following exposure to DNA cross-linking agents in FA and to ionizing radiation (IR) in NBS. We describe two patients who clinically had FA, but showed sensitivity to both DNA cross-linking agents and ionizing radiation, and who were found to have a rare mutation in the NBS gene. The importance of genetic diagnosis with respect to treatment and prognosis is discussed. (C) 2004 Elsevier Inc. All rights reserved.
Author(s): Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O'Driscoll M, Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA
Publication type: Article
Publication status: Published
Journal: Clinical Immunology
Year: 2004
Volume: 113
Issue: 2
Pages: 214-219
ISSN (print): 1521-6616
ISSN (electronic): 1521-7035
Publisher: Academic Press
URL: http://dx.doi.org/10.1016/j.clim.2004.03.024
DOI: 10.1016/j.clim.2004.03.024
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