{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:38:17Z","timestamp":1777725497734,"version":"3.51.4"},"reference-count":39,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:sec>\n<jats:title>OBJECTIVE<\/jats:title>\n<jats:p>The genetic basis underlying the pathophysiology of quasi\u2013moyamoya disease (qMMD) is unclear. Herein, the authors aimed to comprehensively analyze genetic variants in qMMD and investigate their association with clinical phenotypes, focusing on <jats:italic>RNF213<\/jats:italic> and other moyamoya angiopathy (MMA)\u2013related genes.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>METHODS<\/jats:title>\n<jats:p>The authors evaluated 14 consecutive cases of qMMD, whose underlying conditions included autoimmune disease, head irradiation, meningitis\/pachymeningitis, and Turner syndrome, and 9 cases of hyperthyroidism-associated MMD (hMMD). The frequencies of <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys in qMMD and hMMD were each compared to those in healthy controls and in patients with MMD. Whole-exome sequencing was performed, and rare variants (RVs) or damaging variants were analyzed in <jats:italic>RNF213<\/jats:italic> and 36 MMA-related genes.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>RESULTS<\/jats:title>\n<jats:p>The frequencies of p.Arg4810Lys were significantly higher in patients with qMMD (28.6%) and hMMD (33.3%) than in controls (1.1%; p &lt; 0.001) and lower in the two former groups than in the MMD group (67.6%; p = 0.003 and 0.065, respectively). In qMMD, no significant clinical differences were observed based on the presence of p.Arg4810Lys. A novel <jats:italic>RNF213<\/jats:italic> RV was identified in four cases with qMMD. These same cases also presented with significant worsening of intracranial main artery stenosis, which suggests a possible association between <jats:italic>RNF213<\/jats:italic> RVs and the severe progression of qMMD. Among the 36 MMA-related genes, no variants correlated with specific phenotypes.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>CONCLUSIONS<\/jats:title>\n<jats:p>While the clinical implications of p.Arg4810Lys in cases with qMMD were not identified, the study findings suggest a potential association between <jats:italic>RNF213<\/jats:italic> RVs and the significant progression of intracranial artery stenosis. Genetic analysis should not focus solely on p.Arg4810Lys but instead consider a comprehensive analysis of <jats:italic>RNF213<\/jats:italic> for more accurate clinical prognostication of qMMD.<\/jats:p>\n<\/jats:sec>","DOI":"10.3171\/2024.6.jns24202","type":"journal-article","created":{"date-parts":[[2024,9,14]],"date-time":"2024-09-14T03:01:02Z","timestamp":1726282862000},"page":"1-10","source":"Crossref","is-referenced-by-count":4,"title":["Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi\u2013moyamoya disease"],"prefix":"10.3171","author":[{"given":"Seiei","family":"Torazawa","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Miyawaki","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"},{"name":"Department of Neurosurgery, Tokyo Shinjuku Medical Center, Shinjuku-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Hongo","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiichiro","family":"Ishigami","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Kanto Neurosurgical Hospital, Kumagayashi, Saitama;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Sakai","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shotaro","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Kiyofuji","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Koizumi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Komura","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroto","family":"Katoh","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"},{"name":"Department of Neurosurgery, Fuji Brain Institute and Hospital, Fujinomiya-shi, Shizuoka; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Nakatomi","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, Kyorin University, Mitaka-shi, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shumpei","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhito","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"11","key":"b1","series-title":"Lancet Neurol","first-page":"1056","article-title":"Moyamoya disease: current concepts and future perspectives","volume":"7","author":"Kuroda S","year":"2008","unstructured":"Kuroda S, Houkin K. 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World Neurosurg. 2017;99(1):701\u2013708.e1."},{"issue":"8","key":"b15","series-title":"Eur J Hum Genet","first-page":"995","article-title":"Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians","volume":"25","author":"Guey S","year":"2017","unstructured":"Guey S, Kraemer M, Herv\u00e9 D,  Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. Eur J Hum Genet. 2017;25(8):995\u20131003."},{"issue":"1","key":"b16","series-title":"J Neurosurg Pediatr","first-page":"48","article-title":"Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients","volume":"29","author":"Hara S","year":"2021","unstructured":"Hara S, Mukawa M, Akagawa H,  Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients. J Neurosurg Pediatr. 2021;29(1):48\u201356."},{"key":"b17","series-title":"Transl Stroke Res. Published online September","article-title":"Difference in clinical phenotype, mutation position, and structural change of RNF213 rare variants between pediatric and adult Japanese patients with moyamoya disease","volume":"28,","author":"Nomura S","year":"2023","unstructured":"Nomura S, Akagawa H, Yamaguchi K,  Difference in clinical phenotype, mutation position, and structural change of RNF213 rare variants between pediatric and adult Japanese patients with moyamoya disease. Transl Stroke Res. 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Brain. 2023;146(9):3616\u20133623."},{"issue":"1","key":"b24","series-title":"Sci Rep","first-page":"11942","article-title":"Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis","volume":"10","author":"Hongo H","year":"2020","unstructured":"Hongo H, Miyawaki S, Imai H,  Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis. Sci Rep. 2020;10(1):11942."},{"issue":"3","key":"b25","series-title":"Transl Stroke Res","first-page":"410","article-title":"RNF213 p.Arg4810Lys heterozygosity in Moyamoya disease indicates early onset and bilateral cerebrovascular events","volume":"13","author":"Ishigami D","year":"2022","unstructured":"Ishigami D, Miyawaki S, Imai H,  RNF213 p.Arg4810Lys heterozygosity in Moyamoya disease indicates early onset and bilateral cerebrovascular events. 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Brain Dev. 2015;37(8):822\u2013824."},{"issue":"6","key":"b34","series-title":"J Neurosurg Pediatr","first-page":"717","article-title":"Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1","volume":"17","author":"Phi JH","year":"2016","unstructured":"Phi JH, Choi JW, Seong MW,  Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2016;17(6):717\u2013722."},{"key":"b35","series-title":"World Neurosurg","first-page":"e460","article-title":"Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism","volume":"127","author":"Nomura S","year":"2019","unstructured":"Nomura S, Akagawa H, Yamaguchi K,  Rare and low-frequency variants in RNF213 confer susceptibility to moyamoya syndrome associated with hyperthyroidism. World Neurosurg. 2019;127:e460\u2013e466."},{"issue":"3","key":"b36","series-title":"Neurosurg Focus","first-page":"E2","article-title":"Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease","volume":"51","author":"Ishisaka E","year":"2021","unstructured":"Ishisaka E, Watanabe A, Murai Y,  Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease. Neurosurg Focus. 2021;51(3):E2."},{"issue":"6","key":"b37","series-title":"Cancers (Basel)","first-page":"1916","article-title":"Moyamoya vasculopathy in neurofibromatosis type 1 pediatric patients: the role of rare variants of RNF213","volume":"15","author":"Ognibene M","year":"2023","unstructured":"Ognibene M, Scala M, Iacomino M,  Moyamoya vasculopathy in neurofibromatosis type 1 pediatric patients: the role of rare variants of RNF213. Cancers (Basel). 2023;15(6):1916."},{"issue":"1","key":"b38","series-title":"Neurologist","first-page":"4","article-title":"Recurrent cerebral infarction due to moyamoya disease complicated with systemic lupus erythematosus: a case report and literature review","volume":"29","author":"Wang Q","year":"2024","unstructured":"Wang Q, Yao Q, Yuan S,  Recurrent cerebral infarction due to moyamoya disease complicated with systemic lupus erythematosus: a case report and literature review. Neurologist. 2024;29(1):4\u201313."},{"issue":"12","key":"b39","series-title":"Am J Med Genet A","first-page":"2837","article-title":"A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia","volume":"191","author":"Chida-Nagai A","year":"2023","unstructured":"Chida-Nagai A, Tonoki H, Makita N,  A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia. 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