Nijmegen breakage syndrome

Definition:

Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed symptoms similar to NBS, microcephaly, mental retardation, bird-like face, and short stature. The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks.

References:

[1]. Krystyna H Chrzanowska, et al. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012 Feb 28;7:13. [Content Brief]

[2]. Regina Waltes, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009 May;84(5):605-16. [Content Brief]

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