{"id":27162,"date":"2024-05-26T15:55:28","date_gmt":"2024-05-26T13:55:28","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27162"},"modified":"2025-08-26T13:38:19","modified_gmt":"2025-08-26T11:38:19","slug":"rubinstein-taybi-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/rubinstein-taybi-syndrome\/","title":{"rendered":"Rubinstein-Taybi Syndrome"},"content":{"rendered":"

Rubinstein-Taybi Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Rubinstein-Taybi syndrome (RSTS1, OMIM #180849; RSTS2, OMIM #613634) is a genetic disease caused by pathogenic variants in the CREBBP<\/em> or EP300<\/em> genes. It is identified by characteristic facies, broad and often angled thumbs and big toes, dwarfism, and intellectual impairment.<\/p>\n<\/div>

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

Broad Thumbs-Hallux Syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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

CREBBP<\/em> (RSTS1): 40%-50% of cases<\/p>\n

EP300 <\/i>(RSTS2): 3%-8% of cases<\/p>\n<\/div><\/div><\/div><\/div>

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

CREB-binding protein (CREBBP)
\nHistone acetyltransferase p300 (EP300)<\/p>\n<\/div><\/div><\/div><\/div>

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

Histone methyltransferases that act as transcription factors<\/p>\n<\/div><\/div><\/div><\/div>

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

Autosomal dominant, but usually de novo<\/em> mutations<\/p>\n<\/div><\/div><\/div><\/div>

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

Incidence of 1:100.000-1:125.000<\/p>\n<\/div><\/div><\/div><\/div>

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

Mosaic microdeletions in CREBBP lead to a milder phenotype than non-mosaic microdeletions.<\/p>\n

Microduplications in CREBBP lead to a phenotype with mild to moderate intellectual impairment, normal growth, characteristic facies, slightly pronounced changes to the extremities, and various other symptoms.<\/p>\n

The phenotype of individuals with pathogenic EP300<\/em> variants is generally milder: a number of affected individuals exhibit normally developed hands and feet. Intellectual development usually ranges between a normal IQ and moderate impairment.<\/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>