Article
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations.
Brain : a journal of neurology - 22 Oct 2021
Hong Tao, Xiao Xiao, Ren Jian, Cui Bing, Zong Yuru, Zou Jian, Kou Zqi, Jiang Nan, Meng Guolu, Zeng Gao, Shan Yongzhi, Wu Hao, Chen Zan, Liang Jiantao, Xiao Xinru, Tang Jie, Wei Yukui, Ye Ming, Sun Liyong, Li Guilin, Hu Peng, Hui Rutai, Zhang Hongqi, Wang Yibo
Abstract excerpt
Cavernous malformations affecting the CNS occur in ∼0.16-0.4% of the general population. The majority (85%) of cavernous malformations are in a sporadic form, but the genetic background of sporadic cavernous malformations remains enigmatic. Of the 81 patients, 73 (90.1%) patients were detected carrying somatic missense variants in two genes: MAP3K3 and PIK3CA by whole-exome sequencing. The mutation spectrum...
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