Nijmegen breakage syndrome; ataxia-telangiectasia variant 1
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Pathology
- defects in DNA double strand break repair
Genetics
- autosomal recessive
- associated with mutations in the nibrin gene
- chromosome instability esp with chromosome 7 & 14 rearrangements
Clinical manifestations
- chromosomal instability
- radiation sensitivity
- microcephaly
- growth retardation
- immunodeficiency
- predisposition to cancer, especially lymphoid malignancies
Laboratory
More general terms
Additional terms
- ataxia telangiectasia; Louis-Bar syndrome
- Berlin breakage syndrome; ataxia-telangiectasia variant 2
- nibrin; Nijmegen breakage syndrome protein 1; cell cycle regulatory protein p95 (NBN, NBS, NBS1, P95)
References
- ↑ Varon R, Vissinga C, Platzer M et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-76, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9590180 Free Article
- ↑ UniProt http://www.uniprot.org/uniprot/O60934.html