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Background  Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the  STK11  gene, which encodes a serine-threonine kinase, is responsible for PJS.    Methods  Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the  STK11  gene using polymerase chain reaction (PCR) and direct sequencing.    Results  Sequencing of the  STK11  gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel  de novo  mutation.    Conclusion  The results presented herein enlarge the spectrum of mutations of the  STK11  gene by identifying a novel  de novo  mutation in a PJS patient and further support the hypothesis that  STK11  mutations are disease-causing mutations for PJS with or without a positive family history.

A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome