Abstract
BackgroundBrain arteriovenous malformations (BAVMs) are abnormal vessels that are apt to rupture, causing life-threatening intracranial hemorrhage (ICH). The estimated prevalence of BAVMs is 0.05% among otherwise healthy individuals. In this study, we aim to investigate the mutational spectrum of syndromic genes in sporadic BAVM.MethodsWe recruited a cohort of 150 patients with BAVM and performed whole-exome sequencing on their peripheral blood DNA. To explore the mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation, we selected six genes according to the Online Mendelian Inheritance in Man (OMIM) and literature. All variants in the six candidate genes were extracted and underwent filtering for qualifying variants.ResultsThere are a total of four patients with rare variants in hereditary hemorrhagic telangiectasia-related genes. In addition, we identified two patients have the variant of RASA1 gene in our database, which are also rare mutations that are absent from population databases. However, we did not find any patients with GNAQ mutations in our database. ConclusionsIn conclusion, we demonstrated that variants in syndromic vascular malformations play important roles in the etiology of sporadic BAVM.
Highlights
Brain arteriovenous malformations (BAVMs) are abnormal vessels that are apt to rupture, causing lifethreatening intracranial hemorrhage (ICH)
Patients were independently reviewed by two experienced neuroradiologists to verify the diagnosis of BAVM by radiology imaging of the cerebrovascular system (magnetic resonance imaging/angiography (MRI/ MRA), computed tomography angiography (CTA), and three-dimensional digital subtraction angiography (DSA))
Mutational spectrum of gene related with HTT According to previous studies in Online Mendelian Inheritance in Man (OMIM) and literature, there are a total of four hemorrhagic telangiectasia (HHT)-related genes included in our current study (Table 2)
Summary
The estimated prevalence of BAVMs is 0.05% among otherwise healthy individuals. Brain arteriovenous malformations (BAVMs) are abnormal vessels that are apt to rupture, causing lifethreatening intracranial hemorrhage (ICH) [1]. The estimated prevalence of brain BAVMs is 0.05% among otherwise healthy individuals [2]. The pathogenesis of sporadic BAVM is largely unknown, some BAVM cases are associated with hereditary hemorrhagic telangiectasia (HHT) and capillary malformation-arteriovenous malformation (CMAVM) [4, 5]. 30% of affected syndromic individuals have fast-flow AVM [7]. Life-threatening complications can arise from these fast-flow lesions including hemorrhage and neurological consequences requiring transarterial embolization or surgical treatment [8]
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