Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease
Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease
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DOI：
10.3171/2021.5.focus21182
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发表时间：
2021-09-01
影响因子：
4.1
通讯作者：
Morita, Akio
中科院分区：
文献类型：
--
作者：
Ishisaka, Eitaro;Watanabe, Atsushi;Morita, Akio
目的 类烟雾病（QMMD）是与其他基础疾病相关的烟雾病（MMD）。尽管环指蛋白213 (RNF213) c.14576G>A突变与亚洲人群中的MMD高度相关，但其与QMMD的关系尚不清楚。因此，在本研究中，作者试图探讨RNF213 c.14576G>A突变在QMMD的基因诊断和分类中的作用。方法本病例对照研究在四家核心医院进行。设计了基于高分辨率熔解曲线分析的RNF213 c.14576G>A突变筛选系统。对76例MMD患者和10例QMMD患者中RNF213 c.14576G>A的患病率进行了调查。结果两组患者的年龄、性别、家族史和发病方式无显着差异。 QMMD 患者的基础疾病为甲状腺功能亢进症 (n = 6)、1 型神经纤维瘤病 (n = 2)、干燥综合征 (n = 1) 和脑膜炎 (n = 1)。在 64 名 MMD 患者（84.2%）和 8 名 QMMD 患者（80%）中发现 RNF213 c.14576G>A 突变；队列之间的突变频率没有观察到显着差异。 结论 QMMD 有两种形式，一种是血管异常与基础疾病相关，另一种是 MMD 同时并发一种不相关的基础疾病。有人建议，RNF213 c.14576G>A 突变的存在或不存在可能有助于区分这些疾病类型。
OBJECTIVE Quasi-moyamoya disease (QMMD) is moyamoya disease (MMD) associated with additional underlying diseases. Although the ring finger protein 213 (RNF213) c.14576G>A mutation is highly correlated with MMD in the Asian population, its relationship to QMMD is unclear. Therefore, in this study the authors sought to investigate the RNF213 c.14576G>A mutation in the genetic diagnosis and classification of QMMD.METHODS This case-control study was conducted among four core hospitals. A screening system for the RNF213 c.14576G>A mutation based on high-resolution melting curve analysis was designed. The prevalence of RNF213 c.14576G>A was investigated in 76 patients with MMD and 10 patients with QMMD.RESULTS There were no significant differences in age, sex, family history, and mode of onset between the two groups. Underlying diseases presenting in patients with QMMD were hyperthyroidism (n = 6), neurofibromatosis type 1 (n = 2), Sjogren's syndrome (n = 1), and meningitis (n = 1). The RNF213 c.14576G>A mutation was found in 64 patients (84.2%) with MMD and 8 patients (80%) with QMMD; no significant difference in mutation frequency was observed between cohorts.CONCLUSIONS There are two forms of QMMD, one in which the vascular abnormality is associated with an underlying disease, and the other in which MMD is coincidentally complicated by an unrelated underlying disease. It has been suggested that the presence or absence of the RNF213 c.14576G>A mutation may be useful in distinguishing between these disease types.