{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T16:33:17Z","timestamp":1749054797294,"version":"3.40.5"},"reference-count":18,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2019]]},"abstract":"<b><i>Introduction:<\/i><\/b> Primary hyperparathyroidism (PHPT) occurs as part of familial syndromes, including <i>CDC73<\/i>-related disorders caused by germline pathogenic variants of<i><\/i> the<i> CDC73<\/i> gene, particularly in early adulthood. Herein, we report a familial case of a whole germline <i>CDC73<\/i> deletion discordant for PHPT. <b><i>Case Description:<\/i><\/b> A 15-year-old boy was admitted to our hospital because of persistent nausea and vomiting. Laboratory tests showed hypercalcemia (13.6 mg\/dL), hypophosphatemia (2.4 mg\/dL), and elevated intact PTH level (149 pg\/mL). Imaging studies showed an enlarged single parathyroid gland. Thus, the diagnosis of PHPT was made. Microarray analysis of peripheral blood DNA showed a 3.4-Mb heterozygous deletion of 1q31 encompassing 11 genes, including <i>CDC73<\/i>. Total thyroidectomy\/parathyroidectomy was performed; histology was compatible with parathyroid adenoma without any evidence of malignancy. DNA sequencing of the removed adenoma confirmed a hemizygous nonsense variant in the <i>CDC73<\/i> gene in a mosaic manner, which was potentially involved in parathyroid tumorigenesis as the \u201csecond hit.\u201d Importantly, the same deletion was identified in his 52-year-old father who had an unremarkable medical history. <b><i>Conclusions:<\/i><\/b> These data clearly demonstrate the Knudson two-hit theory from a molecular viewpoint. Phenotypic variability and incomplete penetrance of <i>CDC73<\/i>-related disorders, even if caused by a gross deletion, should be noted in a clinical setting.<\/jats:p>","DOI":"10.1159\/000495800","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T22:02:32Z","timestamp":1549663352000},"page":"56-63","source":"Crossref","is-referenced-by-count":2,"title":["A Familial Case of a Whole Germline <i>CDC73<\/i> Deletion Discordant for Primary Hyperparathyroidism"],"prefix":"10.1159","volume":"92","author":[{"given":"Naomi","family":"Hatabu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naho","family":"Katori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naonori","family":"Maeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eri","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Komiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidemitsu","family":"Tsutsui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshitaka","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Nakauchi-Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuo","family":"Matsunaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-2465","authenticated-orcid":false,"given":"Tomohiro","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4895-2759","authenticated-orcid":false,"given":"Kazuki","family":"Yamazawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,2,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-4022"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159\/000381622"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-01249"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20911"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04184.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2789"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1481"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12461"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000000443"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0445-0"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/js.2016-1089"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1048"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02894.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21188"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-6-30"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.0005"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02460.x"}],"container-title":["Hormone 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Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495800","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:18:10Z","timestamp":1745428690000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000495800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12,13]]},"published-print":{"date-parts":[[2019,12,18]]}},"URL":"https:\/\/doi.org\/10.1159\/000495800","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.7694327","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2019]]}}}