首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?
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Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?

机译:Moyamoya疾病易感基因是否会影响颅外全身动脉狭窄?

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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.
机译:与RNF213基因相关的疾病包括烟雾病,其中p.R4810K(c.14429G>A,rs112735431)纯合子变体被认为是最具致病性的,并与严重的症状显著相关,如早发或起病时的脑梗死。我们报告了一个与RNF213相关的独特日本家系病例。一名无动脉硬化危险因素的53岁女性经历了冠状动脉疾病,随后进行了冠状动脉搭桥手术。8年后,她突然腹痛。她的腹部对比计算机断层扫描显示腹部动脉和肠系膜上动脉狭窄。虽然她的两个孩子和叔叔患有典型的烟雾病,带有RNF213 p.R4810K杂合变异,但她没有烟雾病的临床和放射学证据。由于有烟雾病家族史,进行了基因调查,发现RNF213 p.R4810K纯合子变体。RNF213影响系统性动脉狭窄的可能作用可以从这一罕见的携带纯合子变异携带者的病例中进一步理解。

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