GLT8D1 may not be significant in Chinese sporadic amyotrophic lateral sclerosis patients

Abstract Objective : To detect the mutation frequency of exon 4 of amyotrophic lateral sclerosis (ALS) in a new disease-causing gene, GLT8D1 (NM_018446), in Chinese patients. Methods : In this study, we used whole-exome sequencing technology to screen the full-length GLT8D1 gene in 539 Chinese sporadic ALS patients and 176 controls without a history of neurological diseases. Then, we sequenced the coding region of exon 4 in the GLT8D1 gene in a cohort consisting of 256 sporadic ALS patients. Results : A total of 795 ALS patients included 518 males and 277 females; the mean age of onset was 52.4±11.6. No GLT8D1 causative variants were identified in the sporadic ALS patients. Conclusion : Our current results did not find an association between GLT8D1 and ALS in Chinese patients, and further studies will be required