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NIJMEGEN BREAKAGE SYNDROME, NBS
(OMIM ID: 251260)

Known also as: None


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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