{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:08:34Z","timestamp":1762376914098,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,2]]},"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Single gene sequencing confirmed a novel pathogenic mutation in the <jats:italic>PRKAR1A<\/jats:italic> gene. This case, to our knowledge, is the first report of this mutation identified in a family of French-Canadian origin. This report broadens our understanding of the genotypic and phenotypic spectrum of this rare disease, while it highlights the value of a multidisciplinary approach in rare diseases, for genetic testing facilitated a timely diagnosis and enabled the initiation of early surveillance of CNC-related manifestations in our patient.<\/jats:p>","DOI":"10.1136\/bcr-2021-241886","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T14:46:13Z","timestamp":1618325173000},"page":"e241886","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the <i>PRKAR1A<\/i> gene"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8799-1171","authenticated-orcid":false,"given":"Nisha","family":"Gupta","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, McGill University Health Centre, Montreal, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Kitzler","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2014 Division of Medical Genetics, McGill University Health Centre, Montreal, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Albrecht","sequence":"additional","affiliation":[{"name":"Department of Neuro-Pathology, Montreal Neurological Hospital, Montreal, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Larouche","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Jewish General Hospital, McGill University, Montreal, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,4,13]]},"reference":[{"key":"2025082803103183000_14.4.e241886.1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0209"},{"key":"2025082803103183000_14.4.e241886.2","unstructured":"Stratakis CA , Raygada M . Carney Complex. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews(\u00ae). Seattle (WA): University of Washington, Seattle Copyright \u00a9 1993-2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, 1993."},{"key":"2025082803103183000_14.4.e241886.3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2333"},{"key":"2025082803103183000_14.4.e241886.4","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2025082803103183000_14.4.e241886.5","first-page":"839","article-title":"A snapshot of some pLI score pitfalls","volume":"40","author":"Ziegler","year":"2019","journal-title":"Hum Mutat"},{"key":"2025082803103183000_14.4.e241886.6","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198507000-00007"},{"key":"2025082803103183000_14.4.e241886.7","doi-asserted-by":"publisher","DOI":"10.1038\/79238"},{"key":"2025082803103183000_14.4.e241886.8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-21"},{"key":"2025082803103183000_14.4.e241886.9","doi-asserted-by":"crossref","first-page":"e127","DOI":"10.1016\/j.lpm.2018.07.005","article-title":"Genetics of micronodular adrenal hyperplasia and Carney complex","volume":"47","author":"Tirosh","year":"2018","journal-title":"Presse Med"},{"key":"2025082803103183000_14.4.e241886.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.07.032"},{"key":"2025082803103183000_14.4.e241886.11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.9.4041"},{"key":"2025082803103183000_14.4.e241886.12","unstructured":"National Institute of Health . Genetics home reference [Internet]. Carney Complex. Bethesda, Maryland: U.S. National Library of Medicine, 2020. Available: https:\/\/ghr.nlm.nih.gov\/condition\/carney-complex"},{"key":"2025082803103183000_14.4.e241886.13","unstructured":"National Institute of Health . Genetics home reference [Internet]. PRKAR1A gene. Bethesda, Maryland: U.S. National Library of Medicine, 2020. Available: https:\/\/ghr.nlm.nih.gov\/gene\/PRKAR1A [Accessed 29 Jul 2020]."},{"key":"2025082803103183000_14.4.e241886.14","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.endinu.2017.09.006","article-title":"Carney complex review: genetic features","volume":"65","author":"Bosco Schamun","year":"2018","journal-title":"Endocrinol Diabetes Nutr"},{"key":"2025082803103183000_14.4.e241886.15","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s11102-019-00974-8","article-title":"Acromegaly in Carney complex","volume":"22","author":"Cuny","year":"2019","journal-title":"Pituitary"},{"key":"2025082803103183000_14.4.e241886.16","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s13244-012-0208-6","article-title":"The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation","volume":"4","author":"Courcoutsakis","year":"2013","journal-title":"Insights Imaging"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-241886","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:10:41Z","timestamp":1756375841000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-241886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,4,13]]},"published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1136\/bcr-2021-241886"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-241886","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,4]]}}}