Nijmegen breakage syndrome

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Nijmegen breakage syndrome2016-11-27T14:00:05+00:00

Nijmegen breakage syndrome 

MOLECULAR MEDICINE

A rare autosomal recessive disorder (OMIM:251260) characterised by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.

Molecular pathology Defects in NBN, which encodes a protein that belongs to the MRN complex that plays a critical role in the cell response to DNA damage, cause Nijmegen breakage syndrome.

Nijmegen is the Dutch city where the condition was first described; most patients however are western Slavic and live in Poland. 

Synonyms Ataxia-telangiectasis variant V1, Berlin breakage syndrome, non-syndrome microcephaly—autosomal recessive—with normal intelligence, Seemanova syndrome 

References http://www.uniprot.org/uniprot/O60934

http://www.omim.org/entry/251260

 

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