Validation of the pathogenic role of rare DNAJC7 variants in Chinese patients with amyotrophic lateral sclerosis

•3 ALS patients with possibly causative DNAJC7 mutations were identified in this study.•Bulbar-onset was frequent in DNAJC7-mutated ALS.•Rare DNAJC7 variants are associated with ALS.•A rare variant, R156Q, which was detected in our study positioned at R156, same as R156X, a variant previously reported in Caucasian ALS patients.