Abstract

Background

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive injury of both upper and lower motor neurons. Recently, protein-truncating and missense mutations of DNAJC7 have been reported in European ALS cohorts. However, the contribution of DNAJC7 mutations in Asian patients with ALS remains unclear. Methods: DNAJC7 mutation screening was performed in a large Chinese cohort comprising 304 sporadic ALS (SALS), 16 familial ALS (FALS), and 6 ALS patients presenting with concomitant frontotemporal dementia (FTD). Results: Two rare missense variants of uncertain significance were identified. One was c.410A > G (p.K137R) detected in 1 SALS, which was absent in 2445 neurologically normal controls. The other variant, c.1106A > C (p.N369T), which is considered benign was found in 5 SALS patients with a detected frequency of 0.65% in control group. No pathogenic mutations of DNAJC7 were found in Chinese ALS cohort. Conclusions: Our results suggest that pathogenic mutations of DNAJC7 are rare in Chinese ALS patients.