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.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
Changhe
C
Shi
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Fang
F
Li
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
Jing
J
Yang
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Shuyu
S
Zhang
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Chengyuan
C
Mao
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Institute of Clinical Medicine, The first affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Hui
H
Wang
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
Mengmeng
M
Shi
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
Yutao
Y
Liu
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
Bong
B
Song
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China. Electronic address: xuyuming@zzu.edu.cn.
Yuming
Y
Xu
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D050956:HSP40 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
C494652:DNAJC6 protein, human; D050956:HSP40 Heat-Shock Proteins
Chinese population; DNAJC6; EOPD; Mutation; Variant