Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis

DNAJC7 has recently been identified as an amyotrophic lateral sclerosis (ALS) gene via large-scale exome analysis, and its involvement in ALS is still unclear in various populations. This study aimed to deter-mine the frequencies and characteristics of the DNAJC7 variants in a Japanese ALS cohort. A total of 807 unrelated Japanese patients with sporadic ALS were screened via exome analysis. In total, we detected six rare missense variants and one splice-site variant of the DNAJC7 gene, which are not reported in the Japanese public database. Furthermore, the missense variants are located around the TPR domain, which is important for the function of DNAJC7. The total frequency of the DNAJC7 variants in Japanese ALS pa-tients was estimated at 0.87%. Collectively, these results suggest that variants of DNAJC7 are rare cause of Japanese patients with sporadic ALS.(c) 2021 Elsevier Inc. All rights reserved.

Automated summary

This study aimed to determine the frequencies and characteristics of DNAJC7 gene variants in a Japanese ALS cohort. Rare missense variants and one splice-site variant of DNAJC7 were detected in 807 Japanese patients with sporadic ALS. The variants were located around the TPR domain and the estimated frequency of DNAJC7 variants in Japanese ALS patients was 0.87%.