Article
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.
American journal of human genetics - 6 May 2021
Weng Jiancong, Yang Yingxi, Song Dong, Huo Ran, Li Hao, Chen Yiyun, Nam Yoonhee, Zhou Qiuxia, Jiao Yuming, Fu Weilun, Yan Zihan, Wang Jie, Xu Hongyuan, Di Lin, Li Jie, Wang Shuo, Zhao Jizong, Wang Jiguang, Cao Yong
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular disorders that affect up to 0.5% of the total population. About 20% of CCMs are inherited because of familial mutations in CCM genes, including CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10, whereas the etiology of a majority of simplex CCM-affected individuals remains unclear. Here, we report somatic mutations of MAP3K3, PIK3CA, MAP2K7, and CCM genes in CCM...
Topics
- Amino Acid Sequence
- Class I Phosphatidylinositol 3-Kinases
- Endothelial Cells
- Germ-Line Mutation
- Hemangioma, Cavernous, Central Nervous System
- Human Umbilical Vein Endothelial Cells
- Humans
- MAP Kinase Kinase Kinase 3
- MAP Kinase Signaling System