Peutz-Jeghers syndrome (PJS, OMIM #175200) is a genetic disease caused by a heterozygous pathogenic variant in the STK11<\/em> gene. It is characterized by the association of gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition to malignant diseases.<\/p>\n<\/div> Synonym:<\/p>\n<\/div><\/div><\/div> PJS<\/p>\n<\/div><\/div><\/div><\/div> Gene:<\/p>\n<\/div><\/div><\/div> STK11<\/i><\/p>\n<\/div><\/div><\/div><\/div> Gen\u00ade products:<\/p>\n<\/div><\/div><\/div> STK11 (serine\/threonine protein kinase)<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Tumor suppressor<\/p>\n Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Autosomal dominant, around 25% de novo<\/em> mutations<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> Unknown<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation<\/p>\n<\/div><\/div><\/div> Not clear<\/p>\n<\/div><\/div><\/div><\/div> Penetrance:<\/p>\n<\/div><\/div><\/div> Clinical manifestations have not yet been found in any of the patients with a pathogenic variant STK11<\/em>.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>\n