Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism

Ji Feng Guo, Bin Xiao, Bing Liao, Xue Wei Zhang, Li Luo Nie, Yu Hu Zhang, Lu Shen, Hong Jiang, Kun Xia, Qian Pan, Xin Xiang Yan, Bei Sha Tang

Research output: Contribution to journalArticle

54 Scopus citations

Abstract

Autosomal recessive early-onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ-1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ-1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069-1074delGTGTCC, and c.T1422C) and one DJ-1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ-1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP.

Original languageEnglish (US)
Pages (from-to)2074-2079
Number of pages6
JournalMovement Disorders
Volume23
Issue number14
DOIs
StatePublished - Oct 30 2008
Externally publishedYes

Keywords

  • Autosomal recessive early-onset Parkinsonism
  • DJ-1
  • Mutations
  • Parkin
  • PINK1

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Guo, J. F., Xiao, B., Liao, B., Zhang, X. W., Nie, L. L., Zhang, Y. H., Shen, L., Jiang, H., Xia, K., Pan, Q., Yan, X. X., & Tang, B. S. (2008). Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. Movement Disorders, 23(14), 2074-2079. https://doi.org/10.1002/mds.22156