{"id":27118,"date":"2024-05-26T13:01:31","date_gmt":"2024-05-26T11:01:31","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27118"},"modified":"2025-08-26T11:29:00","modified_gmt":"2025-08-26T09:29:00","slug":"legius-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/legius-syndrome\/","title":{"rendered":"Legius Syndrome"},"content":{"rendered":"

Legius Syndrome \u2013\u00a0Definition<\/h2><\/div>
<\/div><\/div><\/div><\/div>

Legius syndrome (OMIM #611431) is a genetic disorder caused by pathogenic variants in the SPRED1<\/em> gene. Clinically, it is mainly characterized by multiple caf\u00e9-au-lait spots without the occurrence of other manifestations of neurofibromatosis type 1 (NF1).<\/p>\n<\/div>

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

Neurofibromatosis type1-like syndrome (NFLS)<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

SPRED1<\/i><\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

SPRED1<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

Part of the RAS\/MAPK signaling pathway<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

Autosomal dominant<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

Unknown, although approximately 2% of patients who meet the NF1 diagnostic criteria have a pathogenic SPRED1<\/em> variant (the prevalence of NF1 is 1:3000).<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

unknown<\/p>\n<\/div><\/div><\/div><\/div>

<\/div><\/div>

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

Nearly all patients exhibit caf\u00e9 au lait spots and intertriginous freckling.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

<\/div>
<\/div><\/div><\/div><\/div><\/div><\/div>

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