AUTHOR=Liu Junyu , Liao Xin , Zhou Jilin , Li Bingyang , Xu Lu , Liu Songlin , Li Yifeng , Yuan Dun , Hu Chongyu , Jiang Weixi , Yan Junxia TITLE=A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm JOURNAL=Frontiers in Neurology VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2021.672570 DOI=10.3389/fneur.2021.672570 ISSN=1664-2295 ABSTRACT=
Intracranial aneurysm (IA) is a cerebrovascular disorder in which abnormal dilation of a blood vessel results from weakening of the blood vessel wall. The aneurysm may rupture, leading to subarachnoid hemorrhage with severe outcomes. This study was conducted to identify the genetic factors involved in the etiology of IA. Whole-exome sequencing was performed in three IA-aggregate families to identify candidate variants. Further association studies of candidate variants were performed among sporadic cases and controls. Bioinformatic analysis was used to predict the functions of candidate genes and variants. Twenty variants were identified after whole-exome sequencing, among which eight were selected for replicative association studies.