{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:14:26Z","timestamp":1762377266260,"version":"3.37.3"},"reference-count":16,"publisher":"Korean Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T00:00:00Z","timestamp":1664841600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-enm.org"],"crossmark-restriction":true},"short-container-title":["Endocrinol Metab"],"published-print":{"date-parts":[[2022,10,31]]},"abstract":"<jats:p>The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (&lt;i&gt;PRKAR1A&lt;\/i&gt;) are common causes of CNC. Here, we present the case of a patient with CNC with a novel &lt;i&gt;PRKAR1A&lt;\/i&gt; missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of &lt;i&gt;PRKAR1A&lt;\/i&gt; (c.176A&gt;T). Her relatives, suspected of having CNC, also carried the same variant. RNA analysis revealed that this variant led to nonsense-mediated mRNA decay. In vitro functional analysis of the variant confirmed its role in increasing protein kinase A activity and cyclic adenosine monophosphate levels. This study broadens our understanding of the genetic spectrum of CNC. We suggest that &lt;i&gt;PRKAR1A&lt;\/i&gt; genetic testing and counseling be recommended for patients with CNC and their families.<\/jats:p>","DOI":"10.3803\/enm.2022.1544","type":"journal-article","created":{"date-parts":[[2022,10,4]],"date-time":"2022-10-04T08:32:18Z","timestamp":1664872338000},"page":"810-815","update-policy":"https:\/\/doi.org\/10.3803\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Missense PRKAR1A Variant Causes Carney Complex"],"prefix":"10.3803","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5695-8902","authenticated-orcid":true,"given":"Boram","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6186-2937","authenticated-orcid":true,"given":"Han Na","family":"Jang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung Shil","family":"Chae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ho Seop","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong Hwy","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2954-3677","authenticated-orcid":true,"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1932-0234","authenticated-orcid":true,"given":"Jung Hee","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2119","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198507000-00007"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/eje-20-1120"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2013.08.022"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1055\/a-0753-4943"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1530\/eje-15-0209"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1530\/edm-18-0150"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab266"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1206"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2333"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa002"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21178"},{"volume-title":"Regulatory Subunit type 1-alpha of protein kinase A (PKA): mutation database [Internet]","year":"2022","key":"ref15"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.9.7903"}],"container-title":["Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-enm.org\/upload\/pdf\/enm-2022-1544.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-enm.org\/journal\/view.php?doi=10.3803\/EnM.2022.1544","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-enm.org\/upload\/pdf\/enm-2022-1544.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T05:41:49Z","timestamp":1667281309000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-enm.org\/journal\/view.php?doi=10.3803\/EnM.2022.1544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,31]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,10]]}},"URL":"https:\/\/doi.org\/10.3803\/enm.2022.1544","relation":{},"ISSN":["2093-596X","2093-5978"],"issn-type":[{"type":"print","value":"2093-596X"},{"type":"electronic","value":"2093-5978"}],"subject":[],"published":{"date-parts":[[2022,10,31]]},"assertion":[{"value":"2022-07-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-04","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-31","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}