{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:09:04Z","timestamp":1771546144760,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T00:00:00Z","timestamp":1649462400000},"content-version":"vor","delay-in-days":98,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["20K08251"],"award-info":[{"award-number":["20K08251"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Juvenile polyposis syndrome (JPS) is one of the hereditary polyposis syndromes caused by abnormal regulation of transforming growth factor \u03b2 signaling because of mutations in <jats:italic>BMPR1A<\/jats:italic> and <jats:italic>SMAD4<\/jats:italic>. Juvenile polyposis syndrome patients with <jats:italic>SMAD4<\/jats:italic> mutations develop cardiovascular events, whereas those with <jats:italic>BMPR1A<\/jats:italic> usually do not. Analysis of genetic mutations in JPS patients can be helpful in devising suitable strategies for medical management. In this study, we demonstrate the pathogenicity of a novel intronic mutation in <jats:italic>BMPR1A<\/jats:italic> using mRNA extracted from colonic mucosa of a boy with JPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA extracted from peripheral blood and total RNA isolated from the colonic mucosa were used for DNA sequencing and reverse transcription polymerase chain reaction (RT\u2010PCR) analyses, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 13\u2010year\u2010old boy, with no previous medical history, presented to the hospital complaining of bloody stools. Colonoscopy revealed multiple polyps in the colon, and the resected polyps were compatible with juvenile polyps. Sequencing analysis revealed a novel intronic mutation (c.778+5G&gt;C) in <jats:italic>BMPR1A<\/jats:italic>. Reverse transcription polymerase chain reaction analysis of RNA extracted from the colonic mucosa showed an aberrant splicing form of <jats:italic>BMPR1A<\/jats:italic>. Trio analysis showed that his mother also had the same <jats:italic>BMPR1A<\/jats:italic> mutation. She was diagnosed with cancer of the cecum and polyposis of the colon at the age of 41.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We demonstrate the presence of a novel <jats:italic>BMPR1A<\/jats:italic> intronic mutation that exhibits splicing abnormality in a family with JPS. Further research and development will help elucidate the genotype\u2013phenotype relationship in JPS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15041","type":"journal-article","created":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T16:50:43Z","timestamp":1635267043000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel <i>BMPR1A<\/i> mutation affects mRNA splicing in juvenile polyposis syndrome"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2512-6043","authenticated-orcid":false,"given":"Kazuo","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Ibaraki Japan"},{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4456-2799","authenticated-orcid":false,"given":"Atsushi","family":"Morita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1290-3501","authenticated-orcid":false,"given":"Hiroko","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Ibaraki Japan"},{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manabu","family":"Tagawa","sequence":"additional","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Ibaraki Japan"},{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Ibaraki Japan"},{"name":"Department of Pediatrics University of Tsukuba Hospital Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/88919"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5366.1086"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0826-1"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000002246"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2014.435"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.59.3665"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15732-2"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2016.10.015"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep32759"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1093587"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.06.027"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.15041","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ped.15041","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.15041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T12:18:11Z","timestamp":1747397891000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.15041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1111\/ped.15041"],"URL":"https:\/\/doi.org\/10.1111\/ped.15041","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"2021-01-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e15041"}}