Nijmegen breakage syndrome

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Nijmegen breakage syndrome (NBS) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday Junction DNA repair mechanism. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. It is caused by a mutation in the NBS1 gene. The name derives from the Dutch city Nijmegen where the condition was first described (Weemaes et al 1981). Most people with NBS have West Slavic origins. The largest number of them live in Poland. NBS is also known as Berlin breakage syndrome and Seemanova syndrome.

[edit] References

(2000) "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child 82 (5): 400-6. PMID 10799436. Full text
Digweed M, Sperling K (2004). "Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks". DNA Repair (Amst) 3 (8-9): 1207-17. PMID 15279809.
Iijima K, Komatsu K, Matsuura S, Tauchi H (2004). "The Nijmegen breakage syndrome gene and its role in genome stability". Chromosoma 113 (2): 53-61. PMID 15258809.
Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD. (1981). "A new chromosomal instability disorder: the Nijmegen breakage syndrome". Acta Paediatr Scand 70 (4): 557-64. PMID 7315300..