{"id":27142,"date":"2024-05-26T13:41:59","date_gmt":"2024-05-26T11:41:59","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27142"},"modified":"2025-08-26T12:27:00","modified_gmt":"2025-08-26T10:27:00","slug":"nijmegen-breakage-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/nijmegen-breakage-syndrome\/","title":{"rendered":"Nijmegen Breakage Syndrome"},"content":{"rendered":"

Nijmegen Breakage Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Nijmegen breakage syndrome (OMIM #251260) is a rare hereditary disease associated with an increased risk of cancer. It is caused by a defect in the DNA double strand break repair mechanism and increased chromosome breakage. Symptoms are striking facies due to microcephaly and retrognathia, immunodeficiency, and an increased susceptibility to infections. The most commonly associated tumors are malignant lymphomas.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

NBS, OMIN #251260<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

NBN<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade products:<\/p>\n<\/div><\/div><\/div>

Nibrin<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Part of the MRE11\/RAD50 double strand break repair complex<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

1:100.000 worldwide, more common in the Slavic population of Eastern Europe<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation<\/p>\n<\/div><\/div><\/div>

The most commonly detected pathogenic variant in Eastern Europe is c.657_661del5 as well as the other most commonly identified loss of function mutations give rise to conventional disease presentations.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>