{"id":27095,"date":"2024-05-26T12:02:32","date_gmt":"2024-05-26T10:02:32","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27095"},"modified":"2025-08-22T15:30:36","modified_gmt":"2025-08-22T13:30:36","slug":"bohring-opitz-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/bohring-opitz-syndrome\/","title":{"rendered":"Bohring-Opitz Syndrome"},"content":{"rendered":"

Bohring-Opitz Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Bohring-Opitz syndrome (BOS, OMIM #605039) is characterized by an intellectual disorder, characteristic facial features, and multiple anomalies. There is probably an increased risk of Wilms’ tumors.<\/p>\n<\/div>

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

C-like syndrome, Oberklaid-Danks syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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

ASXL1<\/em> (not all patients carry a mutation, which is why heterogeneity is assumed; KLHL7<\/em> has been described as a recessive gene)<\/p>\n<\/div><\/div><\/div><\/div>

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

ASXL1<\/p>\n<\/div><\/div><\/div><\/div>

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

regulation of HOX genes; chromatin remodeling<\/p>\n<\/div><\/div><\/div><\/div>

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

autosomal dominant (germline mosaic described in parents)<\/p>\n<\/div><\/div><\/div><\/div>

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

extremely rare<\/p>\n<\/div><\/div><\/div><\/div>

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

unknown<\/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>