{"id":27187,"date":"2024-05-26T16:34:19","date_gmt":"2024-05-26T14:34:19","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27187"},"modified":"2025-08-27T10:45:13","modified_gmt":"2025-08-27T08:45:13","slug":"warsaw-breakage-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/warsaw-breakage-syndrome\/","title":{"rendered":"Warsaw Breakage Syndrome"},"content":{"rendered":"

Warsaw Breakage Syndrome \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

Warsaw Breakage Syndrome (OMIN #613398) is a hereditary syndromic disorder associated with increased chromosomal fragility and, thus, an increased risk of cancer. It is caused by a defect in the DDX11<\/em> gene, which is considered a tumor suppressor, among other things. The typical symptom triad is microcephaly, growth retardation, and deafness, which is often accompanied by cochlear malformations.<\/p>\n<\/div>

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

WABS<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

DDX11<\/em> (ChlR1)<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

ATP-dependent DNA helicase DDX11<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

Sister chromatid cohesion and DNA replication, tumor suppressor<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

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

<\/div><\/div>

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

Currently 23 cases described worldwide<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

<\/div>

–<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

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

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

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