{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T03:34:37Z","timestamp":1789097677663,"version":"build-2803163510"},"reference-count":81,"publisher":"The Endocrine Society","issue":"6","funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Germline loss-of-function CDKN1B gene variants cause the autosomal dominant syndrome of multiple endocrine neoplasia type 4 (MEN4). Even though pituitary neuroendocrine tumors are a well-known component of the syndrome, only 2 cases of Cushing\u2019s disease (CD) have so far been described in this setting.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To screen a large cohort of CD patients for CDKN1B gene defects and to determine their functional effects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>We screened 211 CD patients (94.3% pediatric) by germline whole-exome sequencing (WES) only (n = 157), germline and tumor WES (n = 27), Sanger sequencing (n = 6), and\/or germline copy number variant (CNV) analysis (n = 194). Sixty cases were previously unpublished. Variant segregation was investigated in the patients\u2019 families, and putative pathogenic variants were functionally characterized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Five variants of interest were found in 1 patient each: 1 truncating (p.Q107Rfs*12) and 4 nontruncating variants, including 3 missense changes affecting the CDKN1B protein scatter domain (p.I119T, p.E126Q, and p.D136G) and one 5\u2019 untranslated region (UTR) deletion (c.-29_-26delAGAG). No CNVs were found. All cases presented early (10.5 \u00b1 1.3 years) and apparently sporadically. Aside from colon adenocarcinoma in 1 carrier, no additional neoplasms were detected in the probands or their families. In vitro assays demonstrated protein instability and disruption of the scatter domain of CDKN1B for all variants tested.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Five patients with CD and germline CDKN1B variants of uncertain significance (n = 2) or pathogenic\/likely pathogenic (n = 3) were identified, accounting for 2.6% of the patients screened. Our finding that germline CDKN1B loss-of-function may present as apparently sporadic, isolated pediatric CD has important implications for clinical screening and genetic counselling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa160","type":"journal-article","created":{"date-parts":[[2020,3,31]],"date-time":"2020-03-31T03:15:06Z","timestamp":1585624506000},"page":"1983-2005","source":"Crossref","is-referenced-by-count":45,"title":["Germline\n                    <i>CDKN1B<\/i>\n                    Loss-of-Function Variants Cause Pediatric Cushing\u2019s Disease With or Without an MEN4 Phenotype"],"prefix":"10.1210","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2228-9437","authenticated-orcid":false,"given":"Fanny","family":"Chasseloup","sequence":"first","affiliation":[{"name":"Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland"},{"name":"Department \u00a0of Endocrinology, Cochin Hospital, Assistance Publique H\u00f4pitaux de Paris, Institut Cochin, INSERM U1016 CNRS 8104 Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5958-693X","authenticated-orcid":false,"given":"Nathan","family":"Pankratz","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Lane","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7959-9842","authenticated-orcid":false,"given":"Fabio R","family":"Faucz","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5077-2218","authenticated-orcid":false,"given":"Margaret F","family":"Keil","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9349-4756","authenticated-orcid":false,"given":"Prashant","family":"Chittiboina","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-2698","authenticated-orcid":false,"given":"Denise M","family":"Kay","sequence":"additional","affiliation":[{"name":"Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Hussein Tayeb","sequence":"additional","affiliation":[{"name":"College of Medicine, Sulaimani University, Sulaimani, Kurdistan, Iraq"},{"name":"Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-5520","authenticated-orcid":false,"given":"Constantine A","family":"Stratakis","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4496-332X","authenticated-orcid":false,"given":"James L","family":"Mills","sequence":"additional","affiliation":[{"name":"Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6599-6406","authenticated-orcid":false,"given":"Laura C","family":"Hern\u00e1ndez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, 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(Oxf)."},{"issue":"3","key":"2021122105522090200_CIT0006","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1530\/EJE-11-0929","article-title":"Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype","volume":"166","author":"Malanga","year":"2012","journal-title":"Eur J Endocrinol."},{"issue":"3","key":"2021122105522090200_CIT0007","doi-asserted-by":"crossref","first-page":"e1003350","DOI":"10.1371\/journal.pgen.1003350","article-title":"A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype","volume":"9","author":"Occhi","year":"2013","journal-title":"Plos Genet."},{"issue":"1","key":"2021122105522090200_CIT0008","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1530\/EC-14-0116","article-title":"Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple 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