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Abstract
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by mutations in the Serine-Threonine Kinase 11 (STK11) gene. We performed genetic molecular testing, analysis of a pedigree and clinical features of the PJS proband. A heterozygous splice site c.290+1G>A mutation in STK11 gene was found in the 25-year-old patient with clinical manifestations of PJS. Other family members with gastrointestinal polyps, skin oral mucosa hyperpigmentation have been identified as mutation carriers. Father, grandmother, and aunt of the proband were diagnosed with cancer, including small intestine, lung, and cervical cancer.
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