{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:59:02Z","timestamp":1791176342130,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,9,30]],"date-time":"2006-09-30T00:00:00Z","timestamp":1159574400000},"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":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the <jats:italic>STK11<\/jats:italic> gene, encoding a serine threonine kinase have been reported in these patients. However, <jats:italic>STK11<\/jats:italic> mutations do not explain all PJS cases. An earlier study reported absence of <jats:italic>STK11<\/jats:italic> mutations in two Indian families and suggested another potential locus on 19q13.4 in one of them.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We sequenced the promoter and the coding region including the splice-site junctions of the <jats:italic>STK11<\/jats:italic> gene in 16 affected members from ten well-characterized Indian PJS families with a positive family history.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We did not observe any of the reported mutations in the <jats:italic>STK11<\/jats:italic> gene in the index patients from these families. We identified a novel pathogenic mutation (c.790_793 delTTTG) in the <jats:italic>STK11<\/jats:italic> gene in one index patient (10%) and three members of his family. The mutation resulted in a frame-shift leading to premature termination of the STK11 protein at 286<jats:sup>th<\/jats:sup> codon, disruption of kinase domain and complete loss of C-terminal regulatory domain. Based on these results, we could offer predictive genetic testing, prenatal diagnosis and genetic counselling to other members of the family.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Ours is the first study reporting the presence of <jats:italic>STK11<\/jats:italic> mutation in Indian PJS patients. It also suggests that reported mutations in the <jats:italic>STK11<\/jats:italic> gene are not responsible for the disease and novel mutations also do not account for many Indian PJS patients. Large-scale genomic deletions in the <jats:italic>STK11<\/jats:italic> gene or another locus may be associated with the PJS phenotype in India and are worth future investigation.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-7-73","type":"journal-article","created":{"date-parts":[[2006,9,30]],"date-time":"2006-09-30T06:24:46Z","timestamp":1159597486000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A novel mutation in STK11gene is associated with Peutz-Jeghers Syndrome in Indian patients"],"prefix":"10.1186","volume":"7","author":[{"given":"Nikita","family":"Thakur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D Nageshwar","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G Venkat","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Mohankrishna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lalji","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giriraj R","family":"Chandak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,9,30]]},"reference":[{"key":"181_CR1","first-page":"134","volume":"10","author":"JL Peutz","year":"1921","unstructured":"Peutz JL: On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous membrane. 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