{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T17:52:28Z","timestamp":1774547548198,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,6,18]],"date-time":"2014-06-18T00:00:00Z","timestamp":1403049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Head & Neck"],"published-print":{"date-parts":[[2014,12]]},"abstract":"ABSTRACT<\/jats:title>Background<\/jats:title>Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH<\/jats:italic>) gene.<\/jats:p><\/jats:sec>Methods<\/jats:title>DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 \u00d7 1 Genetic Analyzer.<\/jats:p><\/jats:sec>Results<\/jats:title>A 30\u2010year\u2010old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. 18<\/jats:sup>F\u2010fluorodeoxyglucose (FDG)\u2010positron emission tomography (PET)\/CT revealed a hot spot in the adrenal gland, besides the carotid mass. Surgical pathology confirmed recurrence of the carotid PGL and a concomitant pheochromocytoma. Genetic analysis revealed SDHD<\/jats:italic> c.119del T (p.I40TfsX46) mutation. One daughter has been identified as a carrier.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>We found a novel SDHD<\/jats:italic> mutation from a Korean family that shows similar clinical features to those in other SDHD<\/jats:italic> mutations, mostly from Western countries. Further studies are needed to determine whether similar genotype\u2010phenotype correlations exist in the Asian patients with familial PGLs. \u00a9 2014 Wiley Periodicals, Inc. Head Neck<\/jats:italic> 36: E131\u2013E135, 2014<\/jats:p><\/jats:sec>","DOI":"10.1002\/hed.23670","type":"journal-article","created":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T06:18:36Z","timestamp":1394086716000},"source":"Crossref","is-referenced-by-count":6,"title":["Novel germline SDHD<\/i> mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma"],"prefix":"10.1002","volume":"36","author":[{"given":"Eun Sook","family":"Kim","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su Yeon","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eun Young","family":"Mo","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong Kyu","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Dae","family":"Moon","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Je Ho","family":"Han","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine Incheon St. Mary's Hospital Incheon Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,18]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"159","volume-title":"World Health Organization classification of tumours pathology and genetics: tumours of endocrine organs","author":"Kimura 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