Nijmegen Breakage Syndrome

Synonyms

At-V1

Ataxia Telangiectasia Variant 1

Ataxia Telangiectasia Variant V1

Ataxia-Telangiectasia Variant 1

Ataxia-Telangiectasia Variant 1s

Ataxia-Telangiectasia Variant V1

Ataxia-Telangiectasia Variant V1s

Berlin Breakage Syndrome

Breakage Syndrome, Berlin

Breakage Syndrome, Nijmegen

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

Syndrome, Berlin Breakage

Syndrome, Nijmegen Breakage

Variant 1s, Ataxia-Telangiectasia

Variant V1, Ataxia-Telangiectasia

Variant V1s, Ataxia-Telangiectasia

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.