{"id":27094,"date":"2024-05-26T11:59:39","date_gmt":"2024-05-26T09:59:39","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27094"},"modified":"2025-08-22T15:25:33","modified_gmt":"2025-08-22T13:25:33","slug":"bloom-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/bloom-syndrome\/","title":{"rendered":"Bloom Syndrome"},"content":{"rendered":"

Bloom Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Bloom syndrome (OMIM #210900) is a rare hereditary disease associated with increased chromosomal fragility. The number of spontaneous mutations is increased and explains the increased risk of cancer. The most striking feature is significant growth retardation.<\/p>\n<\/div>

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

BS, BSyn<\/p>\n<\/div><\/div><\/div><\/div>

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

BLM<\/em><\/p>\n<\/div><\/div><\/div><\/div>

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Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>

BLM DNA RecQ 3\u2032-5\u2032-Helicase<\/p>\n<\/div><\/div><\/div><\/div>

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

Part of the RECQ helicase enzymes that unwind the DNA double helix. BLM maintains genomic stability in DNA replication by limiting sister chromatid exchange (SCE).<\/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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Pr\u00e4valenz:<\/p>\n<\/div><\/div><\/div>