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Nijmegen breakage syndrome; ataxia-telangiectasia variant 1
Pathology:
- defects in DNA double strand break repair
Genetics:
1) autosomal recessive
2) associated with mutations in the nibrin gene
3) chromosome instability esp with chromosome 7 & 14 rearrangements
Clinical manifestations:
1) chromosomal instability
2) radiation sensitivity
3) microcephaly
4) growth retardation
5) immunodeficiency
6) predisposition to cancer, especially lymphoid malignancies
Laboratory:
- NBN gene mutation
Related
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)
General
chromosomal instability syndrome
Properties
ASSOCIATED-NEOPLASM[S]: lymphoma
glial neoplasm (glioma)
medulloblastoma
rhabdomyosarcoma
Database Correlations
OMIM 251260
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: 9590180 Free Article
- UniProt :accession O60934