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Nijmegen Breakage Syndrome

  • Irina Kondratenko
  • Olga Paschenko
  • Alexandr Polyakov
  • Andrey Bologov
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 601)

Abstract

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene—nibrin—is a protein with 95 kDa molecular weight (p95). The same mutation in the NBS1 gene (deletion 657del5) was detected in most of the evaluated patients. In this chapter, we describe the analysis of the literature and our results on clinical and immunological features and genetic evaluation of 21 NBS patients.

Keywords

Aplastic Anemia Premature Ovarian Failure Ataxia Telangiectasia Nijmegen Breakage Syndrome NBS1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Irina Kondratenko
    • 1
  • Olga Paschenko
    • 1
  • Alexandr Polyakov
    • 1
  • Andrey Bologov
    • 1
  1. 1.Russian Clinical Children’s Hospital and Institute for Clinical GeneticsMoscowRussia

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