Nijmegen Breakage Syndrome

Overview

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Is a:

Disease or Syndrome

Definition:

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.

Synonyms:

Breakage Syndrome, Nijmegen
Syndrome, Nijmegen Breakage

Broader Topics:

DNA Repair-Deficiency Disorders

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity