Nijmegen breakage syndrome
| Nijmegen breakage syndrome | |
| 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.
References
- ↑ 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.
- ↑ "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child. 82 (5): 400–6. 2000. PMID 10799436. Full text
- ↑ 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.
External links
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