Article
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
European journal of neurology - 1 Dec 2024
Xu Jun, Zou Zhengxing, Liu Wanyang, Zhang Qian, Shen Juan, Hao Fangbin, Chen Gan, Yu Dan, Li Yunzhu, Zhang Zhengshan, Qin Yuchen, Yang Rimiao, Wang Yue, Duan Lian
Abstract excerpt
BACKGROUND AND PURPOSE: The penetrance of the RNF213 p.R4810K, a founder mutation of moyamoya disease (MMD), is estimated to be only 1/150-1/300. However, the factors affecting its penetrance remain unclear. Therefore, our study aims to identify modifier genes associated with the incomplete penetrance of this founder mutation. METHODS: Whole-exome sequencing (WES) was performed on 36 participants, including...
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