{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:50:12Z","timestamp":1786978212604,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,2,6]],"date-time":"2022-02-06T00:00:00Z","timestamp":1644105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006062","name":"Foundation for Promotion of Cancer Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006680","name":"Takeda Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006680","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57\u2010kb deletion involving the transcription start site and non\u2010coding exon 1 of\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    . The proband is a 28\u2010year\u2010old male with bilateral large\u2010cell calcified Sertoli cell testicular tumors and pituitary adenoma. Comprehensive genomic profiling for cancer mutations using Foundation One CDx failed to detect any mutations in\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    in DNA from the testicular tumor. Single\u2010nucleotide polymorphism array analysis of the proband\u2019s genomic DNA revealed a large deletion in the 5\u2032 region of\n                    <jats:italic>PRKAR1A<\/jats:italic>\n                    . Genomic walking further delineated the region an 8.57\u2010kb deletion. A 1.68\u2010kb DNA fragment encompassed by the deleted region showed strong promoter activity in a NanoLuc luciferase reporter assay. The patient\u2019s mother, who is suffering from recurrent cardiac myxoma, a critical sign for CNC, carried an identical deletion. The 8.57\u2010kb deleted region is a novel lesion for CNC and will facilitate molecular diagnosis of the disease.\n                  <\/jats:p>","DOI":"10.1002\/mgg3.1884","type":"journal-article","created":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T02:56:20Z","timestamp":1644202580000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel 8.57\u2010kb deletion of the upstream region of\n                    <i>PRKAR1A<\/i>\n                    in a family with Carney complex"],"prefix":"10.1002","volume":"10","author":[{"given":"Shin","family":"Ito","sequence":"first","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aya","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazunori","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadafumi","family":"Kawamura","sequence":"additional","affiliation":[{"name":"Division of Urology Miyagi Cancer Center Hospital  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shingo","family":"Myoen","sequence":"additional","affiliation":[{"name":"Division of Urology Miyagi Cancer Center Hospital  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Division of Genetic Counseling Miyagi Cancer Center Hospital  Natori Japan"},{"name":"Department of Maternal and Fetal Medicine Miyagi Children's Hospital  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuro","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Pathology Miyagi Cancer Center Hospital  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takamichi","family":"Minato","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shingo","family":"Miyabe","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Nakazato","sequence":"additional","affiliation":[{"name":"Division of Head and Neck Surgery Miyagi Cancer Center Hospital  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keitaro","family":"Fujii","sequence":"additional","affiliation":[{"name":"Division of Head and Neck Surgery Miyagi Cancer Center Hospital  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Division of Cancer Stem Cells Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruna","family":"Fujimori","sequence":"additional","affiliation":[{"name":"Division of Cancer Stem Cells Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Tamai","sequence":"additional","affiliation":[{"name":"Division of Cancer Stem Cells Miyagi Cancer Center Research Institute  Natori Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Niihori","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Sugawara","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironobu","family":"Sasano","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0857-8929","authenticated-orcid":false,"given":"Hiroshi","family":"Shima","sequence":"additional","affiliation":[{"name":"Division of Cancer Chemotherapy Miyagi Cancer Center Research Institute  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3887-6871","authenticated-orcid":false,"given":"Jun","family":"Yasuda","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Oncology Miyagi Cancer Center Research Institute  Natori Japan"},{"name":"Tohoku Medical Megabank Organization Tohoku University  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792\u2010198507000\u201000007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102287\u20108"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1801946"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkj144"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078\u20100432.CCR\u201007\u20101155"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.21873\/anticanres.14891"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201014\u20100685"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/a\u20100753\u20104943"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pin.12154"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/79238"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/pin.12142"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.55.6605"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep30707"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u20104939\u20106472\u20107_23"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1385\/1\u201059259\u2010192\u20102:365"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013\u20103159"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017\u201001045"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439\u2010019\u20100059\u20105"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx978"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010020\u201020146\u20108"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.83"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1884","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1884","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,27]],"date-time":"2023-08-27T00:11:01Z","timestamp":1693095061000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,6]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/mgg3.1884"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1884","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,6]]},"assertion":[{"value":"2021-11-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1884"}}