Nijmegen Breakage Syndrome (NBS1)
Nijmegen breakage syndrome (NBS) is an autosomal-recessive chromosome instability disorder characterized by growth and developmental defects (growth retardation, severe and progressive microcephaly, a distinct facial appearance, lack of secondary sex characteristics in females, and frequent cryptorchism in males), immunodeficiency, high susceptibility to lymphoid malignancies, hypersensitivity to ionizing radiation, and aberrant cell-cycle checkpoint control (Varon et al. 2017; Seemanova et al. 2016). The disease is caused by mutations in the NBN gene (also abbreviated NBS, NBS1) and is located on chromosome 8q21 (GRCh38.p2: 89,933,336–89,984,733).
In 1981, Weemaes et al. from the University Hospital of Nijmegen, the Netherlands, first described the syndrome in two Dutch brothers with microcephaly, short stature, skin pigmentation abnormalities, mental...
- Deripapa E, Balashov D, Rodina Y, et al. Prospective study of a cohort of Russian Nijmegen breakage syndrome patients demonstrating predictive value of low kappa deleting recombination excision circle (KREC) numbers and beneficial effect of hematopoietic stem cell transplantation (HSCT). Front Immunol. 2017;8:807.CrossRefGoogle Scholar
- Varon R, Demuth I, Chrzanowska KH. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. 999 May 17 [updated 2017 Feb 2].Google Scholar