Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS

Abstract  DnaJ heat shock protein family member C7 gene (DNAJC7) has been identified as a genetic risk factor for amyotrophic lateral sclerosis (ALS). In our study, we aimed to screen for rare variants inDNAJC7 in a large cohort of Chinese ALS patients, and investigate the genotype –phenotype correlation ofDNAJC7 in ALS. Four (0.19%) variants ofDNAJC7 with minor allele frequency (MAF)  <  0.1% among 2124 patients were identified, including 1 protein-truncating variant and 3 missense variants, all of which were predicted to be damaging. The patients carrying variants ofDNAJC7 in our cohort tented to have a limb onset and a relatively slow disease progression. However, burden analysis did not show an enrichment of rare damaging variants in ALS patients compared to controls. Further analysis involving diverse regions and larger sample size is necessary to elucidate the role ofDNAJC7 in the pathogenicity of ALS.
Source: Molecular Neurobiology - Category: Neurology Source Type: research