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NIJMEGEN BREAKAGE SYNDROME, NBS
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| The Nijmegen breakage syndrome is caused by the mutation in NBS1 gene (map locus 8q21). The Nijmegen breakage syndrome, known as ataxia-telangiectasia variant-1, is phenotypically indistinguishable from Berlin breakage syndrome (ataxia-telangiectasia variant-2), and both are autosomal recessive chromosomal instability syndromes. Characteristic symptomes are microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Cells are sensitive to ioznizing radiation. |
DNA repair proteins related with NIJMEGEN BREAKAGE SYNDROME, NBS (251260) disease:
References:
| Authors | Title | Journal |
| Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D. | Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. | Cytogenet Cell Genet. Jan. 1, 1988 |
| Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. | Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. | Am J Med Genet. July 3, 1995 |
| Maraschio P, Spadoni E, Tanzarella C, Antoccia A, Di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C. | Genetic heterogeneity for a Nijmegen breakage-like syndrome. | Clin Genet. April 1, 2003 |
| Cheung VG, Ewens WJ. | Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. | Genome Res Aug. 1, 2006 |
Following keywords are related to NIJMEGEN BREAKAGE SYNDROME, NBS:
Last modification of this entry: Oct. 11, 2010.
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