Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.
Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.
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DOI：
10.1038/s41598-021-01623-6
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发表时间：
2021-11-12
影响因子：
4.6
通讯作者：
Morita A
中科院分区：
文献类型：
--
作者：
Murai Y;Ishisaka E;Watanabe A;Sekine T;Shirokane K;Matano F;Nakae R;Tamaki T;Koketsu K;Morita A
环指蛋白213（RNF 213）易感基因已被发现在80%以上的日本和韩国患者的烟雾病（MMD），双侧颈内动脉（伊卡）闭塞。此外，在超过20%的患有动脉粥样硬化性伊卡狭窄的东亚人中检测到RNF 213。在这项研究中，我们评估了伊卡系统先天性闭塞性病变中RNF 213突变的频率。该病例系列在四所大学医院联合进行。排除有MMD、准MMD或相关疾病家族史的患者。10名患者被诊断出伊卡或大脑中动脉（MCA）血管生成异常。排除神经纤维瘤病患者。最后，9例先天性血管畸形的患者被选中，其中5例伊卡缺陷，4例树枝状MCA。RNF 213 c.14576G > A突变在所有患者中均不存在。因此，RNF 213 c.14576G > A突变可能与伊卡和MCA先天性发育不良无关-罕见的血管异常使得难以研究大量病例。然而，准确的确定需要积累案例。本研究结果有助于先天性血管疾病与MMD的鉴别诊断。
The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia—rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.
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影响因子：
5.6
作者：
Park YS;An HJ;Kim JO;Kim WS;Han IB;Kim OJ;Kim NK;Kim DS
通讯作者：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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