{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:40:03Z","timestamp":1745764803106,"version":"3.40.4"},"reference-count":18,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,9,16]]},"abstract":"<jats:p>Genetic heterogeneity has been recognised in Peutz-Jeghers syndrome (PJS) (over 230 STK11 gene mutations reported). We report a rare PJS phenotype with early extensive gastrointestinal (GI) presentation and a new genetic variant. The case presented as haematochezia and mucocutaneous pigmentation (the patient was 3\u2005years of age). Endoscopy showed several polyps throughout the stomach\/colon (PJ-type hamartomas); the larger polyps were resected. Small bowel imaging detected multiple jejunum\/ileum small polyps. During 8\u2005years of follow-up of this asymptomatic patient, an increasing number of diffusely distributed polyps was observed and polypectomies were performed. Subsequently, the patient failed consultations; when the patient was 13 years of age, emergency surgery was required due to small bowel intussusception (ileal polyp). A STK11 gene study identified two missense variants in heterozygous (yet unknown significance but probably pathogenic): c.854T&gt;A (exon 6) and c.446C&gt;T* (exon 2) (*not previously reported). We report two STK11 gene variants (one not previously described) of yet undetermined causality in a paediatric patient presenting with extensive GI involvement at a very early age, with no family medical history. Structural and functional repercussion of the newly described variants should be further investigated.<\/jats:p>","DOI":"10.1136\/bcr-2015-211345","type":"journal-article","created":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T14:23:10Z","timestamp":1443709390000},"page":"bcr2015211345","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant"],"prefix":"10.1136","volume":"2015","author":[{"given":"Sara","family":"Brito","sequence":"first","affiliation":[]},{"given":"Marta","family":"P\u00f3voas","sequence":"additional","affiliation":[]},{"given":"Juliette","family":"Dupont","sequence":"additional","affiliation":[]},{"given":"Ana Isabel","family":"Lopes","sequence":"additional","affiliation":[]}],"member":"239","published-online":{"date-parts":[[2015,10,1]]},"reference":[{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.1","first-page":"37","article-title":"Peutz-Jeghers syndrome in children and adolescents","volume":"4","author":"El Tayeb","year":"2008","journal-title":"Ann Pediatr Surg"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2009.198499"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.3","unstructured":"McGarrity TJ , Amos CI , Frazier ML , et al . Peutz-Jeghers syndrome. GeneReviews\u2122. Seattle: University of Washington, 1993\u20132015 (Updated 25 July 2013). http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1266\/ (accessed 18 Jan 2015)."},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.4","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-69912008000300015"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0079639"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.6","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/1471-2350-14-58","article-title":"High resolution melting analysis as a rapid and efficient method of screening for small mutation in the STK11 gene in patients with Peutz-Jeghers syndrome","volume":"14","author":"Borun","year":"2013","journal-title":"BMC Med Genet"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.7","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-012-0152-8"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00384-009-0793-0"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.9","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-169"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.010900"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.6.356"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6601030"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.13","first-page":"445","article-title":"S\u00edndrome de Peutz-Jeghers. Diversidade de Express\u00e3o Gastrointestinal em Idade Pedi\u00e1trica e Considera\u00e7\u00f5es sobre a sua Abordagem Cl\u00ednica","volume":"17","author":"Lopes","year":"2004","journal-title":"Acta Med Port"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.14","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318271643c"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.15","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2015.0109"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.16","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22549"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.17","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-006-9435-3"},{"key":"2025042707160616000_2015.oct01_1.bcr2015211345.18","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200009000-00002"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2015-211345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T14:16:14Z","timestamp":1745763374000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2015-211345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,1]]},"references-count":18,"alternative-id":["10.1136\/bcr-2015-211345"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2015-211345","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,10,1]]}}}