カワマタ　タカカズ   Kawamata Takakazu   川俣　貴一    所属   医学部 医学科（東京女子医科大学病院）    職種   教授・基幹分野長
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?
掲載誌名	正式名：Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 略　 称：J Stroke Cerebrovasc Dis ISSNコード：15328511/10523057
掲載区分	国外
巻・号・頁	29(2),pp.104532
著者・共著者	Nomura Shunsuke†, Aihara Yasuo, Akagawa Hiroyuki, Chiba Kentaro, Yamaguchi Koji, Kawashima Akitsugu, Okada Yoshikazu, Kawamata Takakazu
発行年月	2020/02/15
概要	Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset. We report a case of a unique Japanese pedigree associated with RNF213. A 53-year-old woman with no arteriosclerotic risk factors experienced coronary artery disease, followed by coronary artery bypass surgery. In 8 years, she suffered sudden abdominal pain. Her abdominal contrast computed tomography revealed stenosis of abdominal artery and superior mesenteric artery. Though her 2 children and uncle had a typical moyamoya disease with RNF213 p.R4810K heterozygous variant, she has had no clinical and radiological evidence of moyamoya disease. Due to a family history of moyamoya disease, a genetic investigation was performed and revealed RNF213 p.R4810K homozygous variant. A possible role of RNF213 influencing systemic artery stenosis can be further be understood from this rare case harboring the homozygous variant carrier.
DOI	10.1016/j.jstrokecerebrovasdis.2019.104532
PMID	31806452