Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 27

The nibrin gene (NBN): mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth delay, immunodeficiency and a predisposition to cancer. The coded protein is a member of the MRE11/RAD50 double-strand break repair that consists of five proteins. The protein is thought to be involved in the repair of double-stranded DNA breaks and in the activation of check points induced by DNA damage.

DEFINITION.– Microcephaly is an abnormality of the head (small size), a congenital condition associated with incomplete brain development.