Diseases

Nijmegen Breakage Syndrome

A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

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MeSH Record

Synonyms

20 entry terms
  • At-V1
  • Ataxia-Telangiectasia Variant 1
  • Ataxia-Telangiectasia Variant V1
  • Berlin Breakage Syndrome
  • Immunodeficiency, Microcephaly, And Chromosomal Instability
  • Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies
  • Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence
  • Seemanova Syndrome 2
  • Seemanova Syndrome II
  • Ataxia Telangiectasia Variant 1
  • Ataxia Telangiectasia Variant V1
  • Ataxia-Telangiectasia Variant 1s
  • Ataxia-Telangiectasia Variant V1s
  • Breakage Syndrome, Berlin
  • Breakage Syndrome, Nijmegen
  • Syndrome, Berlin Breakage
  • Syndrome, Nijmegen Breakage
  • Variant 1s, Ataxia-Telangiectasia
  • Variant V1, Ataxia-Telangiectasia
  • Variant V1s, Ataxia-Telangiectasia

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2006

MeSH Hierarchy

Tree Number

  1. C18.452w.284w.600w

AMA Style

References

  1. National Library of Medicine. Nijmegen Breakage Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D049932. http://id.nlm.nih.gov/mesh/2026/D049932
  2. Nijmegen Breakage Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome
  3. Nijmegen Breakage Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1250362