{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:05:52Z","timestamp":1773266752559,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":132,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81741051"],"award-info":[{"award-number":["81741051"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p><jats:italic>Background.<\/jats:italic> Peutz\u2010Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the <jats:italic>STK11<\/jats:italic> gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition. <jats:italic>Aims.<\/jats:italic> We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype\u2010phenotype correlations. <jats:italic>Methods.<\/jats:italic> Thirty\u2010eight patients clinically diagnosed with Peutz\u2010Jeghers syndrome were included in this study from 2016 to 2019. Combined direct sequencing and multiplex ligation\u2010dependent probe amplification tests were used to detect germline heterogeneous <jats:italic>STK11<\/jats:italic> mutations. RNA sequencing was performed in polyps of PJS patients and control groups to evaluate the difference in expression of <jats:italic>STK11<\/jats:italic>. The genotype\u2010phenotype correlations were calculated by Kaplan\u2010Meier analyses. <jats:italic>Results.<\/jats:italic> All 26 probands and 12 affected relatives had germline heterogeneous <jats:italic>STK11<\/jats:italic> mutations among which 8 variants were novel. Individuals with missense mutations had their first surgery and other symptoms significantly later than individuals with null mutations. <jats:italic>Conclusion.<\/jats:italic> This study expanded the spectrum of <jats:italic>STK11<\/jats:italic> gene mutations and further elucidated individuals with null mutations of <jats:italic>STK11<\/jats:italic> typically had an earlier onset of PJS symptoms and needed earlier management.<\/jats:p>","DOI":"10.1155\/2020\/9159315","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T23:31:13Z","timestamp":1589326273000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and Genetic Analyses of 38 Chinese Patients with Peutz\u2010Jeghers Syndrome"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2757-5202","authenticated-orcid":false,"given":"Bo-Da","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5876-1775","authenticated-orcid":false,"given":"Yong-Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-1838","authenticated-orcid":false,"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4175-3979","authenticated-orcid":false,"given":"Hui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8328-6320","authenticated-orcid":false,"given":"Peng","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9574-2282","authenticated-orcid":false,"given":"Mei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9759-2254","authenticated-orcid":false,"given":"Xiao-Liu","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"e_1_2_9_1_2","first-page":"168","article-title":"Surface pigmentation and generalized intestinal polyposis; 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