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

journal contribution
posted on 2023-06-07, 13:54 authored by A.R. Gennery, M.A. Slatter, A. Bhattacharya, D. Barge, S. Haigh, Mark O'DriscollMark O'Driscoll, R. Coleman, M. Abinun, T.J. Flood, A.J. Cant, Penny Jeggo
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.

History

Publication status

  • Published

Journal

Clinical Immunology

ISSN

1521-6616

Volume

113

Page range

214-219

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2007-03-20

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