Electronic letters
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
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EDITOR
Nijmegen breakage syndrome (NBS) (OMIM
251260) is a rare autosomal recessive condition. The major
manifestations include microcephaly, a distinct facial appearance,
growth retardation, recurring infections owing to combined
immunodeficiency, spontaneous chromosomal instability (with
characteristic rearrangements of chromosomes 7 and 14),
hypersensitivity to ionising radiation, and a very high predisposition
to lymphoid malignancy. The immunological, cytogenetic, and cell
biological findings are very similar to those in ataxia telangiectasia
(AT); however, NBS patients lack the neurocutaneous manifestations of
AT, as well as a raised serum 
-fetoprotein (AFP).1-3
Recently, the gene mutated in NBS has been cloned. The
NBS1 gene is located on chromosome 8q21 and
encodes a protein called nibrin, a member of the hRad50/hMre11 protein complex involved in DNA double strand break
processing.4 5 NBS is quite a rare disease with about 80 patients ascertained world wide, including 50 Polish. The vast majority
of NBS patients are of Slavic origin and carry a
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This article has been cited by other articles:
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Chrzanowska, K H, Bekiesinska-Figatowska, M, Jozwiak, S, Maraschio, P, Danesino, C, Varon, R, Tiepolo, L
(2002). Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. J. Med. Genet.
39: e25-25
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