{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:30:00Z","timestamp":1790271000232,"version":"4.1.0"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective was to assess involvement of loss of the <jats:italic>PRKAR1A<\/jats:italic> gene encoding a type 1\u03b1 regulatory subunit of cAMP-dependent protein kinase A located on 17q24 in a Carney complex (CNC)-related pituitary adenoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>We investigated aberrations of the <jats:italic>PRKAR1A<\/jats:italic> gene in a CNC patient with a GH-producing pituitary adenoma, whose family has three other members with probable CNC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A gene mutation was identified by a standard DNA sequencing method based on PCR. DNA copy number was measured to evaluate allelic loss on 17q24 by quantitative PCR. The breakpoints of deletion were determined by cloning a rearranged region in the deleted allele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A <jats:italic>PRKAR1A<\/jats:italic> mutation of c.751_758del8 (p.S251LfsX16) was found in genomic DNA obtained from a pituitary adenoma, but not leukocytes from the patient. Reduced DNA copy number at loci including the <jats:italic>PRKAR1A<\/jats:italic> gene on 17q24 was detected in both the tumor and leukocytes, suggesting a deletion at the loci at the germline level. The deletion size was determined to be \u223c0.5\u200aMb and this large deletion was also found in two other family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first case showing a CNC-related pituitary adenoma with the combination of somatic mutation and a large inherited deletion of the <jats:italic>PRKAR1A<\/jats:italic> gene. Biallelic inactivation of <jats:italic>PRKAR1A<\/jats:italic> appears to be necessary for the development of CNC-related pituitary adenoma.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-14-0685","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T06:48:50Z","timestamp":1413960530000},"page":"K5-K10","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":13,"title":["Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma"],"prefix":"10.1093","volume":"172","author":[{"given":"T","family":"Iwata","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Tamanaha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Koezuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Tochiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Makino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Kishimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Mizusawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Inoshita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Shimatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Yoshimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"4","key":"1_13545103","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00005792-198507000-00007","volume":"64","author":"Carney","year":"1985","journal-title":"Medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0025-7974","issn-type":"print"},{"key":"2_49234869","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.beem.2010.03.003","volume":"24","year":"2010","journal-title":"BEST PRACTICE RESEARCH CLINICAL ENDOCRINOLOGY METABOLISM"},{"issue":"5","key":"3_23548553","doi-asserted-by":"publisher","first-page":"R31","DOI":"10.1172\/JCI10841","volume":"106","author":"Casey","year":"2000","journal-title":"Journal of Clinical Investigation","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"issue":"1","key":"4_10460204","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"6","key":"5_34316251","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1210\/jc.2008-2333","volume":"94","year":"2009","journal-title":"Journal of Clinical Endocrinology &amp; 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