{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:03:34Z","timestamp":1791295414876,"version":"4.1.0"},"reference-count":21,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["PED"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec>\n<jats:title>OBJECTIVE<\/jats:title>\n<jats:p>In a minority of patients with neurofibromatosis Type 1 (NF-1), cerebral vasculopathy reminiscent of moyamoya disease develops. This phenomenon is called moyamoya syndrome (MMS), but there are no known risk factors for the prediction of MMS in NF-1 patients. Polymorphism of the <jats:italic>RNF213<\/jats:italic> gene has exhibited strong associations with familial and sporadic moyamoya disease and other cerebral vasculopathies. The aim of this study is to find whether the <jats:italic>RNF213<\/jats:italic> c.14576G&gt;A variant is associated with MMS development in the NF-1 population or not.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>METHODS<\/jats:title>\n<jats:p>The MMS group included 16 NF-1 patients with documented MMS. The control group consisted of 97 NF-1 patients without MMS. Genomic DNA samples were obtained from the saliva or blood of both groups, and the presence of the <jats:italic>RNF213<\/jats:italic> c.14576G&gt;A variant was assessed by Sanger sequencing.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>RESULTS<\/jats:title>\n<jats:p>In the MMS group, 3 patients had the <jats:italic>RNF213<\/jats:italic> c.14576G&gt;A variant (18.7%), whereas no patients with this genetic variation were observed in the control group (0%). There was a meaningful association between the <jats:italic>RNF213<\/jats:italic> c.14576G&gt;A variant and MMS development (p = 0.0024). The crude odds ratio was calculated as 50.57 (95% CI 1.57\u20131624.41). All 3 patients with MMS and the c.14576G&gt;A variant were diagnosed with MMS at an early age and had bilateral involvement.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>CONCLUSIONS<\/jats:title>\n<jats:p>The <jats:italic>RNF213<\/jats:italic> c.14576G&gt;A variant is more common in NF-1 patients who develop MMS than in NF-1 patients without MMS. This variant might be a susceptibility gene for the NF-1\u2013moyamoya connection.<\/jats:p><\/jats:sec>","DOI":"10.3171\/2015.10.peds15537","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T14:58:43Z","timestamp":1454684323000},"page":"717-722","source":"Crossref","is-referenced-by-count":29,"title":["Association between moyamoya syndrome and the RNF213 c.14576G&gt;A variant in patients with neurofibromatosis Type 1"],"prefix":"10.3171","volume":"17","author":[{"given":"Ji Hoon","family":"Phi","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Won","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Samsung Medical Center;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tackeun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Sungnam, Gyeonggi-do; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youn Joo","family":"Moon","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joongyub","family":"Lee","sequence":"additional","affiliation":[{"name":"Medical Research Collaborating Center, Seoul National University Hospital;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Jung","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Dongguk University Ilsan Hospital, Goyang, Gyeonggi-do, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seul Ki","family":"Ryu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Hee","family":"Kang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Seung","family":"Bang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Sungnam, Gyeonggi-do; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang Wan","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Sungnam, Gyeonggi-do; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Sup","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Yeoun","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"},{"name":"Department of Anatomy, Seoul National University College of Medicine, Seoul;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyu-Chang","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Ki","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1-peds15537","series-title":"PLoS One","doi-asserted-by":"publisher","first-page":"e49222","DOI":"10.1371\/journal.pone.0049222","article-title":"Loss of NF1 expression in human endothelial cells promotes autonomous proliferation and altered vascular morphogenesis","volume":"7","author":"Bajaj","year":"2012"},{"key":"b2-peds15537","series-title":"J Neurol Neurosurg Psychiatry","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1136\/jnnp.2007.136457","article-title":"Cerebrovascular dysplasia in neurofibromatosis type 1","volume":"79","author":"Cairns","year":"2008"},{"key":"b3-peds15537","series-title":"J Med Genet","first-page":"81","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","author":"Ferner","year":"2007"},{"key":"b4-peds15537","series-title":"J Child Neurol","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1177\/0883073812441059","article-title":"Cerebral vasculopathy in children with neurofibromatosis type 1","volume":"28","author":"Ghosh","year":"2013"},{"key":"b5-peds15537","series-title":"Biochem Biophys Res Commun","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.bbrc.2013.07.004","article-title":"Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients","volume":"438","author":"Hitomi","year":"2013"},{"key":"b6-peds15537","series-title":"J Hum Genet","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/jhg.2010.132","article-title":"A genome-wide association study identifies RNF213 as the first moyamoya disease gene","volume":"56","author":"Kamada","year":"2011"},{"key":"b7-peds15537","series-title":"Environ Health Prev Med","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s12199-012-0299-1","article-title":"P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure","volume":"18","author":"Koizumi","year":"2013"},{"key":"b8-peds15537","series-title":"J Neurosurg Pediatr","doi-asserted-by":"publisher","first-page":"417","DOI":"10.3171\/2012.12.PEDS12281","article-title":"Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization","volume":"11","author":"Koss","year":"2013"},{"key":"b9-peds15537","series-title":"Neurology","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1212\/WNL.0b013e318249f71f","article-title":"Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease","volume":"78","author":"Miyatake","year":"2012"},{"key":"b10-peds15537","series-title":"Stroke","doi-asserted-by":"publisher","first-page":"2894","DOI":"10.1161\/STROKEAHA.113.002477","article-title":"Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis\/occlusion","volume":"44","author":"Miyawaki","year":"2013"},{"key":"b11-peds15537","series-title":"J Stroke Cerebrovasc Dis","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1016\/j.jstrokecerebrovasdis.2015.01.005","article-title":"Genetic analysis of RNF213 c.14576G>A variant in nonatherosclerotic quasi-moyamoya disease","volume":"24","author":"Miyawaki","year":"2015"},{"key":"b12-peds15537","series-title":"Sci Rep","first-page":"4442","article-title":"Moyamoya disease-associated protein mysterin\/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state","volume":"4","author":"Morito","year":"2014"},{"key":"b13-peds15537","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1136\/jmedgenet-2012-100978","article-title":"Neurofibromatosis type 1: from genotype to phenotype","volume":"49","author":"Pasmant","year":"2012"},{"key":"b14-peds15537","series-title":"J Korean Neurosurg Soc","doi-asserted-by":"publisher","first-page":"408","DOI":"10.3340\/jkns.2015.57.6.408","article-title":"Moyamoya syndrome: a window of moyamoya disease","volume":"57","author":"Phi","year":"2015"},{"key":"b15-peds15537","series-title":"Pediatrics","doi-asserted-by":"publisher","first-page":"e476","DOI":"10.1542\/peds.2009-0152","article-title":"Cerebral arteriopathy in children with neurofibromatosis type 1","volume":"124","author":"Rea","year":"2009"},{"key":"b16-peds15537","series-title":"Neurology","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1212\/01.WNL.0000150544.00016.69","article-title":"Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1","volume":"64","author":"Rosser","year":"2005"},{"key":"b17-peds15537","series-title":"N Engl J Med","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and moyamoya syndrome","volume":"360","author":"Scott","year":"2009"},{"key":"b18-peds15537","series-title":"Int J Stroke","doi-asserted-by":"publisher","first-page":"E26","DOI":"10.1111\/ijs.12306","article-title":"Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy","volume":"9","author":"Smith","year":"2014"},{"key":"b19-peds15537","series-title":"Neurosurgery","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1227\/00006123-198803000-00016","article-title":"Cerebrovascular disorders associated with von Recklinghausen's neurofibromatosis: a case report","volume":"22","author":"Sobata","year":"1988"},{"key":"b20-peds15537","series-title":"Pediatrics","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1542\/peds.2007-3204","article-title":"Neurofibromatosis type 1 revisited","volume":"123","author":"Williams","year":"2009"},{"key":"b21-peds15537","series-title":"Circulation","doi-asserted-by":"publisher","first-page":"2148","DOI":"10.1161\/CIRCULATIONAHA.107.707752","article-title":"NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response","volume":"116","author":"Xu","year":"2007"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/17\/6\/article-p717.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/17\/6\/article-p717.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/17\/6\/article-p717.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T13:16:16Z","timestamp":1681564576000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/17\/6\/article-p717.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":21,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.3171\/2015.10.peds15537","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6]]}}}