Nijmegen breakage syndrome

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Nijmegen breakage syndrome
Classification and external resources
OMIM 251260
DiseasesDB 32395
eMedicine derm/725 
MeSH D049932

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.

[edit] References

  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. doi:10.1016/j.dnarep.2004.03.004. PMID 15279809. 
  2. ^ "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group" (2000). Arch Dis Child 82 (5): 400–6. 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. doi:10.1007/s00412-004-0298-0. PMID 15258809. 
  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. doi:10.1111/j.1651-2227.1981.tb05740.x. PMID 7315300. 

[edit] External links

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