Exome sequencing of 112 trios identifies recessive genetic variants in brain arteriovenous malformations.

Mingqi ZhangXinghuan DingQianqian ZhangJian LiuYisen ZhangYing ZhangZhongbin TianWenqiang LiWei ZhuHuibin KangZhongxiao WangXinzhi WuChao WangXinjian YangKun Wang

Published in: Journal of neurointerventional surgery (2020)

Our study indicates that rare recessive compound heterozygous variants may underlie cases of BAVM. These findings improve our understanding of BAVM pathology and indicate genes for functional validation.

Keyphrases

genome wide
copy number
intellectual disability
muscular dystrophy
single cell
gene expression
autism spectrum disorder
blood brain barrier