{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:22:54Z","timestamp":1792174974045,"version":"4.4.0"},"reference-count":46,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T00:00:00Z","timestamp":1602547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["NIGMS GM114102"],"award-info":[{"award-number":["NIGMS GM114102"]}],"id":[{"id":"10.13039\/100000057","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"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR001120"],"award-info":[{"award-number":["UL1 TR001120"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR002645"],"award-info":[{"award-number":["UL1 TR002645"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30 CA54174"],"award-info":[{"award-number":["P30 CA54174"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["F31GM131634"],"award-info":[{"award-number":["F31GM131634"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1108032"],"award-info":[{"award-number":["APP1108032"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hillcrest Foundation"},{"DOI":"10.13039\/501100006364","name":"Institut National Du Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006364","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000048","name":"American Cancer Society","doi-asserted-by":"publisher","award":["MRSG-15-063-01-TBG"],"award-info":[{"award-number":["MRSG-15-063-01-TBG"]}],"id":[{"id":"10.13039\/100000048","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Purpose<\/jats:title>\n                  <jats:p>This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (PGL).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Data were collected from a registry of probands with TMEM127 variants, published reports, and public databases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main Outcome Analysis<\/jats:title>\n                  <jats:p>Clinical, genetic, and functional associations were determined.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The cohort comprised 110 index patients (111 variants) with a mean age of 45 years (range, 21-84 years). Females were predominant (76 vs 34, P &amp;lt; .001). Most patients had PHEO (n = 94; 85.5%), although PGL (n = 10; 9%) and renal cell carcinoma (RCC, n = 6; 5.4%) were also detected, either alone or in combination with PHEO. One-third of the cases had multiple tumors, and known family history was reported in 15.4%. Metastatic PHEO\/PGL was rare (2.8%). Epinephrine alone, or combined with norepinephrine, accounted for 82% of the catecholamine profiles of PHEO\/PGLs. Most variants (n = 63) occurred only once and 13 were recurrent (2-12 times). Although nontruncating variants were less frequent than truncating changes overall, they were predominant in non-PHEO clinical presentations (36% PHEO-only vs 69% other, P &amp;lt; .001) and clustered disproportionately within transmembrane regions (P &amp;lt; .01), underscoring the relevance of these domains for TMEM127 function. Integration of clinical and previous experimental data supported classification of variants into 4 groups based on mutation type, localization, and predicted disruption.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Patients with TMEM127 variants often resemble sporadic nonmetastatic PHEOs. PGL and RCC may also co-occur, although their causal link requires further evaluation. We propose a new classification to predict variant pathogenicity and assist with carrier surveillance.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa741","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T03:14:41Z","timestamp":1602645281000},"page":"e350-e364","source":"Crossref","is-referenced-by-count":25,"title":["Genotype-Phenotype Features of Germline Variants of the <i>TMEM127<\/i> Pheochromocytoma Susceptibility Gene: A 10-Year Update"],"prefix":"10.1210","volume":"106","author":[{"given":"Gustavo","family":"Armaiz-Pena","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahida K","family":"Flores","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-Ming","family":"Cheng","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xhingyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Esquivel","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Poullard","sequence":"additional","affiliation":[{"name":"Mays Cancer Center, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anusha","family":"Vaidyanathan","sequence":"additional","affiliation":[{"name":"Mays Cancer Center, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Population Health Sciences, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Michalek","sequence":"additional","affiliation":[{"name":"Department of Population Health Sciences, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo A","family":"Santillan-Gomez","sequence":"additional","affiliation":[{"name":"Division of Surgical Oncology, Department of Surgery, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Liss","sequence":"additional","affiliation":[{"name":"Department of Urology, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ahmadi","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Katselnik","sequence":"additional","affiliation":[{"name":"Diabetes and Metabolism Specialists, San Antonio, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Maldonado","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, University of Texas Health San Antonio (UTHSA), San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarimar Agosto","family":"Salgado","sequence":"additional","affiliation":[{"name":"Department Endocrine Neoplasia, The University of Texas MD Anderson Cancer Center, Houston, Texas, 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Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7757-370X","authenticated-orcid":false,"given":"Patricia L M","family":"Dahia","sequence":"additional","affiliation":[{"name":"Division of Hematology and Medical Oncology, Department of Medicine, UTHSA, San Antonio, Texas"},{"name":"Mays Cancer Center, UTHSA, San Antonio, Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2020,10,13]]},"reference":[{"issue":"1","key":"2021122204220147900_CIT0001","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/01.cco.0000198017.45982.06","article-title":"Evolving concepts in pheochromocytoma and paraganglioma","volume":"18","author":"Dahia","year":"2006","journal-title":"Curr Opin Oncol."},{"issue":"6","key":"2021122204220147900_CIT0002","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1097\/MPA.0b013e3181ebb4f0","article-title":"The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer","volume":"39","author":"Chen","year":"2010","journal-title":"Pancreas."},{"issue":"2","key":"2021122204220147900_CIT0003","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nrc3648","article-title":"Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity","volume":"14","author":"Dahia","year":"2014","journal-title":"Nat Rev Cancer."},{"issue":"3","key":"2021122204220147900_CIT0004","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng.533","article-title":"Germline mutations in TMEM127 confer susceptibility to pheochromocytoma","volume":"42","author":"Qin","year":"2010","journal-title":"Nat Genet."},{"issue":"4","key":"2021122204220147900_CIT0005","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.185","article-title":"Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas","volume":"13","author":"Toledo","year":"2017","journal-title":"Nat Rev Endocrinol."},{"issue":"10","key":"2021122204220147900_CIT0006","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1093\/hmg\/ddy095","article-title":"The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex","volume":"27","author":"Deng","year":"2018","journal-title":"Hum Mol Genet."},{"issue":"11","key":"2021122204220147900_CIT0007","doi-asserted-by":"crossref","first-page":"L79","DOI":"10.1530\/ERC-17-0359","article-title":"Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation","volume":"24","author":"Deng","year":"2017","journal-title":"Endocr Relat 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