{"id":27181,"date":"2024-05-26T16:18:49","date_gmt":"2024-05-26T14:18:49","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27181"},"modified":"2025-08-27T10:29:41","modified_gmt":"2025-08-27T08:29:41","slug":"sotos-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/sotos-syndrome\/","title":{"rendered":"Sotos Syndrome"},"content":{"rendered":"

Sotos Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Sotos syndrome (OMIM #117550) is a genetic disease caused by pathogenic variants in the NSD1<\/em> gene. It features characteristic facies, developmental delays, and macrosomia.<\/p>\n<\/div>

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

Cerebral gigantism<\/p>\n

Chromosome 5q35 deletion syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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

NSD1<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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

NSD1 (Nuclear receptor-binding SET domain protein 1)<\/p>\n<\/div><\/div><\/div><\/div>

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

Histone methyltransferase acting as a transcription factor<\/p>\n<\/div><\/div><\/div><\/div>

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

Autosomal-dominant, 95% de novo <\/i>Mutations<\/p>\n<\/div><\/div><\/div><\/div>

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

1:14.000 live births<\/p>\n<\/div><\/div><\/div><\/div>

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

5q35 microdeletions exhibit less pronounced macrosomia but greater developmental delays than intragenic pathogenic variants.<\/p>\n<\/div><\/div><\/div><\/div>

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

100%<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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