Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation  

作　　者：Kun Wang Mingqi Zhang Sen Zhao Zhixin Xie Yisen Zhang Jian Liu Ying Zhang Xinjian Yang Nan Wu 

机构地区：[1]Department of Interventional Neuroradiology,Beijing Neurosurgical Institute and Beijing Tiantan Hospital,Capital Medical University,Beijing 100050,China [2]Department of Orthopedic Surgery,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China [3]Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Beijing 100730,China [4]Key Laboratory of Big Data for Spinal Deformities,Chinese Academy of Medical Sciences,Beijing 100730,China

出　　处：《Chinese Neurosurgical Journal》2022年第2期104-110,共7页中华神经外科杂志（英文）

基　　金：This study was sponsored by the National Key Research and Development Plan of China(grant number: 2016YFC1300800);the National Natural Science Foundation of China(grant numbers: 81901178, 82072036 and 81822030);the Special Research Project for Capital Health Development(grant number: 2018-4-1077);Beijing Natural Science Foundation(JQ20032)

摘　　要：Background:Brain arteriovenous malformations(BAVMs)are abnormal vessels that are apt to rupture,causing lifethreatening 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.Methods:We 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.Results:There 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.Conclusions:In conclusion,we demonstrated that variants in syndromic vascular malformations play important roles in the etiology of sporadic BAVM.

关 键 词：ARTERIOVENOUS MALFORMATION spectrum 

分 类 号：R743.4[医药卫生—神经病学与精神病学]