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C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.

Human molecular genetics - 29 Aug 2020

Huang Cheng, Shen Zong Rui, Huang Jin, Sun Shun Chang, Ma Di, Li Mei Yi, Wang Zhi Kui, Zheng Ying Chun, Zheng Zhuo Jun, He Fei, Xu Xiaoyuan, Li Ziang, Zheng Bo Yang, Li Yue Mao, Xu Xiang Min, Xiong Fu

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy and shows clinical and genetic heterogeneity. Mutations in C1orf194 encoding a Ca2+ regulator in neurons and Schwann cells have been reported previously by us to cause CMT disease. In here, we further investigated the function and pathogenic mechanism of C1or194 by generating C1orf194 knockout (KO) mice. Homozygous mutants of...

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PMID: 32592472
DOI: 10.1093/hmg/ddaa129

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