DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population

Neurosci Lett. 2016 Nov 10:634:60-62. doi: 10.1016/j.neulet.2016.09.044. Epub 2016 Sep 26.

Abstract

DNAJC6 has been reported as a causative gene for early onset Parkinson's disease (EOPD) in some populations, and different mutations have been reported to be associated with EOPD. However, Until now, there is limited information about DNAJC6 gene test in sporadic EOPD patients in Chinese population. Herein, we performed comprehensive DNAJC6 mutation screenings in 117 EOPD patients from Chinese population. None of the reported disease-causing mutations were found. However, we identified a novel non-synonymous heterozygous variant c.2798T>C (p.Val933Ala). Bioinformatics analysis demonstrate that the c.2798T>C variant exhibits highly conserved residues across species. Our data suggests that DNAJC6 mutations are not common causes of EOPD in Chinese population.

Keywords: Chinese population; DNAJC6; EOPD; Mutation; Variant.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Asian People
  • Case-Control Studies
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • HSP40 Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Young Adult

Substances

  • DNAJC6 protein, human
  • HSP40 Heat-Shock Proteins