A Novel Potentially Pathogenic Rare Variant in theDNAJC7Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China

Variants in theDNAJC7gene have been shown to be novel causes of amyotrophic lateral sclerosis (ALS). However, the contributions ofDNAJC7mutations in Asian ALS patients remain unclear. In this study, we screened rare pathogenic variants in theDNAJC7gene in a cohort of 578 ALS patients from Mainland China. A novel, rare, putative pathogenic variant c.712A>G (p.R238G) was identified in one sporadic ALS patient. The carrier with this variant exhibited symptom onset at a relatively younger age and experienced rapid disease progression. Our results expand the pathogenic variant spectrum ofDNAJC7and indicate that variants in theDNAJC7gene may also contribute to ALS in the Chinese population.