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The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia

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.

Publication metadata

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


DOI: 10.1016/j.clim.2004.03.024


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