{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T15:24:50Z","timestamp":1794324290410,"version":"4.9.0"},"reference-count":30,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JNS"],"published-print":{"date-parts":[[2017,4]]},"abstract":"\n OBJECTIVE<\/jats:title>\n \n Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 (\n RNF213<\/jats:italic>\n ); actin alpha 2 (\n ACTA2<\/jats:italic>\n ); BRCA1\/BRCA2-containing complex subunit 3 (\n BRCC3<\/jats:italic>\n ); and guanylate cyclase 1, soluble, alpha 3 (\n GUCY1A3<\/jats:italic>\n ) as well as a clinical phenotype analysis in Chinese MMD patients to determine whether genetic differences are responsible for the different clinical features that appear in MMD in different ethnicities.\n <\/jats:p>\n <\/jats:sec>\n \n METHODS<\/jats:title>\n \n A panel was designed to identify disease-causing mutations in MMD genes and those involved in related disorders (\n RNF213<\/jats:italic>\n ,\n ACTA2<\/jats:italic>\n ,\n BRCC3<\/jats:italic>\n , and\n GUCY1A3<\/jats:italic>\n ). The panel was used to detect disease-causing mutations in 255 Chinese MMD patients. Genotype and allele frequencies were compared between patients and 300 controls. A mutation segregation analysis was performed in 34 families, and genotype-phenotype correlations were made.\n <\/jats:p>\n <\/jats:sec>\n \n RESULTS<\/jats:title>\n \n Twenty-seven rare missense variants of\n RNF213<\/jats:italic>\n were identified and were not found in controls. Among them, p.R4810K was identified in 31.4% of patients (80 of 255) with MMD. Significantly higher frequencies of the A allele and G\/A genotype of p.R4810K were observed in MMD patients compared with controls (\u03c7\n 2<\/jats:sup>\n = 104.166, p < 0.000). Twenty-five rare variants were identified in 10.6% of patients (27 of 255) without p.R4810K variants. Segregation analysis supported an association between MMD and 3 variants. No possible disease-causing mutations were identified in\n ACTA2<\/jats:italic>\n ,\n BRCC3<\/jats:italic>\n , or\n GUCY1A3<\/jats:italic>\n . Compared with patients without the rare variants in\n RNF213<\/jats:italic>\n , the p.R4810K heterozygous patients were younger at diagnosis (25 vs 29 years old, p\n =<\/jats:italic>\n 0.049) and had more familial cases (24% vs 4.4%, p\n =<\/jats:italic>\n 0.000), ischemic cases (81.3% vs 67.5%, p\n =<\/jats:italic>\n 0.037), and involvement of the posterior cerebral artery (52% vs 32.5%, p\n =<\/jats:italic>\n 0.007).\n <\/jats:p>\n <\/jats:sec>\n \n CONCLUSIONS<\/jats:title>\n \n RNF213<\/jats:italic>\n is the major susceptibility gene in Chinese MMD patients. The spectrum of rare variants identified in Chinese MMD patients was diverse. Compared to patients without the rare variants in\n RNF213<\/jats:italic>\n , the p.R4810K heterozygous patients exhibited different clinical features.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/2016.2.jns152173","type":"journal-article","created":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T10:02:38Z","timestamp":1461924158000},"page":"1106-1113","source":"Crossref","is-referenced-by-count":79,"title":["RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance"],"prefix":"10.3171","volume":"126","author":[{"given":"Qian","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanbing","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoxia","family":"Lu","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhou","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jizong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1-jns152173","series-title":"Stroke","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1161\/STROKEAHA.113.004273","article-title":"Incidence, prevalence, and survival of moyamoya disease in Korea: a nationwide, population-based study","volume":"45","author":"Ahn IM,","year":"2014","unstructured":"Ahn IM, Park DH, Hann HJ, Kim KH, Kim HJ, Ahn HS: Incidence, prevalence, and survival of moyamoya disease in Korea: a nationwide, population-based study. 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