Nijmegen breakage syndrome: case report and review of literature

The Pan African Medical Journal
Brahim El HasbaouiAomar Agadr

Abstract

Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability andincreased risk of haematopoietic malignancies observed in morethan 40% of the patients by the time they are 20 years old. The underlying gene, NBS1, is located on human chromosome 8q21 and codes for a protein product termed nibrin, Nbs1 or p95. Over 90% of patients are homozygous for a founder mutation: a deletion of five base pairs which leads to a frame shift and protein truncation. Nibrin (NBN) plays an important role in the DNA damage response (DDR) and DNA repair. DDR is a crucial signalling pathway in apoptosis and senescence. Cardinal symptoms of Nijmegen breakage syndrome are characteristic: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sino-pulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The diagnosis of NBS is initially based on clinical manifestations and is...Continue Reading

References

Jul 1, 1981·Acta paediatrica Scandinavica·C M WeemaesR D Taalman
Feb 1, 1996·Journal of Medical Genetics·I van der BurgtC Weemaes
Nov 25, 2003·Clinical and Experimental Immunology·J MichałkiewiczUNKNOWN D. DZIERZANOWSKA
Sep 29, 2004·Clinical Immunology : the Official Journal of the Clinical Immunology Society·A R GenneryP A Jeggo
Jun 21, 2005·Nature Cell Biology·Simone DifilippantonioAndré Nussenzweig
Aug 24, 2007·Advances in Experimental Medicine and Biology·Irina KondratenkoAndrey Bologov
Oct 22, 2008·Pediatric Blood & Cancer·Bozenna Dembowska-BaginskaKrystyna H Chrzanowska
Oct 7, 2010·The Pediatric Infectious Disease Journal·Melinda ErdösLászló Maródi

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