Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
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DOI：
10.1007/s00415-020-09865-6
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发表时间：
2020-05-04
影响因子：
6
通讯作者：
Rosenberger, Georg
中科院分区：
文献类型：
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作者：
Sauvigny, Thomas;Alawi, Malik;Rosenberger, Georg
目的未破裂颅内动脉瘤（UIA）和蛛网膜下腔出血（aSAH）的遗传危险因素尚不清楚。我们的目的是验证最近报道的风险基因，并确定新的序列变异参与UIA/aSAH的病因。方法对35例无血缘关系的UIA和（或）aSAH患者及3例家族成员进行外显子组测序。我们搜索了具有次要等位基因频率（MAF）的序列变异，
Objective Genetic risk factors for unruptured intracranial aneurysms (UIA) and aneurysmal subarachnoid hemorrhage (aSAH) are poorly understood. We aimed to verify recently reported risk genes and to identify novel sequence variants involved in the etiology of UIA/aSAH. Methods We performed exome sequencing (ES) in 35 unrelated individuals and 3 family members, each with a history of UIA and/or aSAH. We searched for sequence variants with minor allele frequency (MAF)