Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients

Publication date: Available online 5 January 2018
Source:Neurobiology of Aging
Author(s): Kang Zhang, Qing Liu, Dongchao Shen, Hongfei Tai, Hanhui Fu, Shuangwu Liu, Jinyi Chen, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui
Amyotrophic lateral sclerosis (ALS) is a lethal neurological disease primarily involving the spinal cord, brainstem, and corticospinal tract. Recently, mutations in the GLE1 gene were reported in Caucasian ALS patients. To inquire whether Chinese ALS patients carried causal mutations in the gene, we screened all 16 coding exons of GLE1 with Sanger sequencing in a Han Chinese cohort of 250 ALS cases. No nonsynonymous coding variants was detected. Our results suggest that pathogenic variants in the GLE1 gene are rare in Chinese ALS patients.



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