Nijmegen breakage syndrome

OMIM | 251260
DiseasesDB | 32395
eMedicine | derm/725
MeSH | D049932

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Nijmegen breakage syndrome (NBS) (also known as Berlin breakage syndrome and Seemanova syndrome) 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. [1][2]

It is caused by a mutation in the NBS1 gene. [3]

The name derives from the Dutch city Nijmegen where the condition was first described.[4]

Most people with NBS have West Slavic origins. The largest number of them live in Poland.

## References

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1. ↑ 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.
2. ↑ "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child. 82 (5): 400–6. 2000. PMID 10799436. Full text
3. ↑ 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.CS1 maint: Multiple names: authors list (link)
4. ↑ 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.CS1 maint: Multiple names: authors list (link)

## External links

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* nijmegen at NIH/UW GeneTests
* http://www.nijmegenbreakagesyndrome.net/homepage.htm

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