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.

Descriptor ID	D049932
MeSH Number(s)	C18.452.284.600
Concept/Terms	Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome Breakage Syndrome, Nijmegen Syndrome, Nijmegen Breakage Ataxia-Telangiectasia Variant 1 Ataxia Telangiectasia Variant 1 Ataxia-Telangiectasia Variant 1s Variant 1s, Ataxia-Telangiectasia Ataxia-Telangiectasia Variant V1 Ataxia Telangiectasia Variant V1 Ataxia-Telangiectasia Variant V1s Variant V1, Ataxia-Telangiectasia Variant V1s, Ataxia-Telangiectasia Seemanova Syndrome II Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence Seemanova Syndrome 2 At-V1 Berlin Breakage Syndrome Breakage Syndrome, Berlin Syndrome, Berlin Breakage

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