| 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.
- ^ (2000) "Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group". Arch Dis Child 82 (5): 400-6. 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.
