2018
DOI: 10.1155/2018/6359174
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RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases

Abstract: In recent years, the ring finger protein 213 gene (RNF213) has gradually attracted attention, mainly because it has been found that RNF213 c.14429 G>A is associated with moyamoya disease (MMD) in East Asian populations. Recent studies have revealed that RFN213 is not only associated with MMD but is also connected with intracranial major artery stenosis/occlusion (ICASO) and intracranial aneurysm (IA). However, only the relationship between RNF213 c.14429 G>A and ICASO has been confirmed, and whether RNF213 has… Show more

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Cited by 17 publications
(24 citation statements)
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References 35 publications
(52 reference statements)
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“…Therefore, environmental aspects may also be important factors in moyamoya disease pathogenesis. 15 We detected the RNF213 gene mutation in our case as shown in Figure S1, so we may assume that there is a relation with early presentation after radiation therapy. According to our knowledge, this is the first case of radiation-induced moyamoya syndrome with a mutation in RNF213 SNP.…”
Section: A 2-year-old Patient With a Diffuse Intrinsic Pontine Gliomamentioning
confidence: 52%
“…Therefore, environmental aspects may also be important factors in moyamoya disease pathogenesis. 15 We detected the RNF213 gene mutation in our case as shown in Figure S1, so we may assume that there is a relation with early presentation after radiation therapy. According to our knowledge, this is the first case of radiation-induced moyamoya syndrome with a mutation in RNF213 SNP.…”
Section: A 2-year-old Patient With a Diffuse Intrinsic Pontine Gliomamentioning
confidence: 52%
“…Unfortunately, due to the limitations of the retrospective design, we could not collect the data for medications. As the pathogenesis of MMD is known to be ethnically diverse, the effect of RNF213 variants on ICASO may have varied in other populations [26]. Moreover, the low prevalence of RNF213 variants and the small sample size of this study may have limited the statistical power to detect differences between subgroups and gene-environmental interactions.…”
Section: Discussionmentioning
confidence: 91%
“…Beyond conflicting reports regarding the functional role of RNF213, epidemiologic data have shown significant associations between RNF213 variants and intracranial vascular disorders including MMD, ICASO, cerebral artery dissection, and intracranial aneurysm [4,[24][25][26]. At least 24 genetic changes in RNF213 have been associated with MMD [21].…”
Section: Discussionmentioning
confidence: 99%
“…Besides this RNF213 p.R4810K dose effect, mutations in different sites of RNF213 may have various effects on blood vessels. The RNF213 p.R4810K mutation may be the main cause of MMD intracranial artery stenosis and is more related to the MMD ischemic phenotype, whereas the rarer RNF213 p.A4399T mutation is more related to the MMD hemorrhagic phenotype [127,149]. Apart from MMD, RNF213 variants have also been described in other cerebrovascular diseases such as intracranial aneurysms and intracranial major artery stenosis/occlusion and different mutation sites may be involved in various cerebrovascular diseases as mutations in the ATPase domain are predominantly related to intracranial aneurysms and mutations in the RING finger domain are all related to MMD (c.11990 G > A, c.12020 C > G, c.12037 G > A, and c.12055 C > T) [127,129,135,149,150].…”
Section: Genotype-phenotype Correlationmentioning
confidence: 99%
“…The RNF213 p.R4810K mutation may be the main cause of MMD intracranial artery stenosis and is more related to the MMD ischemic phenotype, whereas the rarer RNF213 p.A4399T mutation is more related to the MMD hemorrhagic phenotype [127,149]. Apart from MMD, RNF213 variants have also been described in other cerebrovascular diseases such as intracranial aneurysms and intracranial major artery stenosis/occlusion and different mutation sites may be involved in various cerebrovascular diseases as mutations in the ATPase domain are predominantly related to intracranial aneurysms and mutations in the RING finger domain are all related to MMD (c.11990 G > A, c.12020 C > G, c.12037 G > A, and c.12055 C > T) [127,129,135,149,150]. In other diseases than MMD, RNF213 variants also lead to a more severe clinical course, e.g., R4810K carrier status was independently associated with recurrent cerebrovascular events in patients with intracranial atherosclerosis [151] and the p.R4810K variant was associated with poor clinical outcomes in patients suffering idiopathic pulmonary arterial hypertension [152].…”
Section: Genotype-phenotype Correlationmentioning
confidence: 99%