title: Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
authors.forename: Ji-Feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Bin
authors.initials: B
authors.lastname: Xiao
authors.forename: Bing
authors.initials: B
authors.lastname: Liao
authors.forename: Xue-Wei
authors.initials: XW
authors.lastname: Zhang
authors.forename: Li-Luo
authors.initials: LL
authors.lastname: Nie
authors.forename: Yu-Hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases / Q000235:genetics*; D006180:Proton-Translocating ATPases / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D000071617:Protein Deglycase DJ-1; D011494:Protein Kinases; D006180:Proton-Translocating ATPases; D044767:Ubiquitin-Protein Ligases; D000099202:PTEN-Induced Putative Kinase; C514983:ATP13A2 protein, human; C111567:parkin protein; C105131:PARK7 protein, human