{"id":27161,"date":"2024-05-26T15:50:23","date_gmt":"2024-05-26T13:50:23","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27161"},"modified":"2025-08-26T13:35:17","modified_gmt":"2025-08-26T11:35:17","slug":"rothmund-thomson-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/rothmund-thomson-syndrome\/","title":{"rendered":"Rothmund-Thomson Syndrome"},"content":{"rendered":"

Rothmund-Thomson Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Rothmund-Thomson syndrome (RTS, OMIN #268400) is a rare hereditary chromosome instability syndrome, resulting in a cancer predisposition syndrome that is associated with an increased incidence of osteosarcomas. A characteristic feature in the acute phase is classic erythema, which develops into poikiloderma over the course of several years.<\/p>\n<\/div>

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

RTS<\/p>\n<\/div><\/div><\/div><\/div>

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

Type 1 RTS \u2192 unknown<\/p>\n

Type 2 RTS \u2192 RECQL4<\/p>\n<\/div><\/div><\/div><\/div>

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

RECQL4: ATP-dependent DNA helicase Q4<\/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. RECQL4 is involved in the process of DNA replication, DNA repair, telomere preservation, and mitochondrial DNA integrity.<\/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>

Unknown (less than 400 known cases worldwide)<\/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>