Back Nijmegen-Breakage-Syndrom German Síndrome de Nimega Spanish Nijmegenin murtumaoireyhtymä Finnish Syndrome de Nimègue French Zespół Nijmegen Polish Синдром Неймегена Russian Синдром Неймеген Ukrainian
| Nijmegen breakage syndrome | |
|---|---|
| Other names | Berlin breakage syndrome, Ataxia telangiectasia variant 1 and Seemanova syndrome,[1] |
 | |
| Nijmegen breakage syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Endocrinology  |
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive[2] congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).[3]
NBS1 codes for a protein (nibrin) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains why mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome.)
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.
- ^ Seemanova E., Passarge E., Beneskova D., Houstek J., Kasal P., Sevcikova M. (1985). "Familial microcephaly with normal intelligence, immunodeficiency, and risk of lymphoreticular malignancies: a new autosomal recessive disorder". Am. J. Med. Genet. 20 (4): 639–648. doi:10.1002/ajmg.1320200410. PMID 3857858.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Cheung, V. G.; Ewens, W. J. (August 2006). "Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype". Genome Research (Free full text). 16 (8): 973–979. doi:10.1101/gr.5320706. PMC 1524869. PMID 16809669.
- ^ "OMIM Entry - # 251260 - NIJMEGEN BREAKAGE SYNDROME; NBS".
- ^ 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. S2CID 33222775.