{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:54:52Z","timestamp":1761310492777},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,5,22]],"date-time":"2008-05-22T00:00:00Z","timestamp":1211414400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>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 <jats:italic>STK11<\/jats:italic> gene, which encodes a serine-threonine kinase, is responsible for PJS.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the <jats:italic>STK11<\/jats:italic> gene using polymerase chain reaction (PCR) and direct sequencing.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Sequencing of the <jats:italic>STK11<\/jats:italic> 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 <jats:italic>de novo<\/jats:italic> mutation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The results presented herein enlarge the spectrum of mutations of the <jats:italic>STK11<\/jats:italic> gene by identifying a novel <jats:italic>de novo<\/jats:italic> mutation in a PJS patient and further support the hypothesis that <jats:italic>STK11<\/jats:italic> mutations are disease-causing mutations for PJS with or without a positive family history.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-9-44","type":"journal-article","created":{"date-parts":[[2008,5,22]],"date-time":"2008-05-22T06:13:37Z","timestamp":1211436817000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome"],"prefix":"10.1186","volume":"9","author":[{"given":"Jong-Ha","family":"Yoo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jee-Hyoung","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoon-Jung","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung-Gu","family":"Kang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-Kyu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung-A","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Rak","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,5,22]]},"reference":[{"issue":"26","key":"338_CR1","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1056\/NEJM194912292412601","volume":"241","author":"H Jeghers","year":"1949","unstructured":"Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. 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