The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia

Gennery, A.R., Slatter, M.A., Bhattacharya, A., Barge, D., Haigh, S., O'Driscoll, M., Coleman, R., Abinun, M., Flood, T.J., Cant, A.J. and Jeggo, P.A. (2004) The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia. Clinical Immunology, 113. pp. 214-219. ISSN 1521-6616

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Abstract

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.

Item Type: Article
Additional Information: GDSC91
Schools and Departments: School of Life Sciences
Depositing User: Gee Wheatley
Date Deposited: 20 Mar 2007
Last Modified: 30 Nov 2012 16:51
URI: http://sro.sussex.ac.uk/id/eprint/985
Google Scholar:42 Citations
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