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

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.

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