{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T07:51:41Z","timestamp":1721980301315},"reference-count":13,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JNS"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:p>Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the <jats:italic>VHL<\/jats:italic> gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G&gt;T [p.S80I] of <jats:italic>VHL<\/jats:italic>. This is the first known case of a sporadic de novo germline mutation of <jats:italic>VHL<\/jats:italic> at c.239G&gt;T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions.<\/jats:p>","DOI":"10.3171\/2014.2.jns131190","type":"journal-article","created":{"date-parts":[[2014,3,28]],"date-time":"2014-03-28T23:02:11Z","timestamp":1396047731000},"page":"384-386","source":"Crossref","is-referenced-by-count":5,"title":["De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease"],"prefix":"10.3171","volume":"121","author":[{"given":"Xinghua","family":"Ding","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;"},{"name":"Department of Orthopedics, Xinqiao Hospital, The Third Military Medical University, Chong Qing, People's Republic of China; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason M.","family":"Frerich","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand","family":"Germanwala","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunzhang","family":"Yang","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell R.","family":"Lonser","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, The Ohio State University, Columbus, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengping","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingguang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-jns131190","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.01.002"},{"key":"b2-jns131190","doi-asserted-by":"publisher","DOI":"10.1007\/BF02346188"},{"key":"b3-jns131190","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-3505"},{"key":"b4-jns131190","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2004.05.061"},{"key":"b5-jns131190","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13643-4"},{"key":"b6-jns131190","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.175"},{"key":"b7-jns131190","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0040060"},{"key":"b8-jns131190","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-29"},{"key":"b9-jns131190","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2139"},{"key":"b10-jns131190","first-page":"7051","volume":"63","author":"Vortmeyer AO","year":"2003","journal-title":"Cancer Res"},{"key":"b11-jns131190","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl362"},{"key":"b12-jns131190","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.10"},{"key":"b13-jns131190","doi-asserted-by":"publisher","DOI":"10.1007\/s00432-008-0399-x"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/121\/2\/article-p384.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/121\/2\/article-p384.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/121\/2\/article-p384.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T02:44:30Z","timestamp":1653101070000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/121\/2\/article-p384.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[2014,8]]},"references-count":13,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3171\/2014.2.jns131190","relation":{},"ISSN":["0022-3085","1933-0693"],"issn-type":[{"value":"0022-3085","type":"print"},{"value":"1933-0693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8]]}}}