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 language | English (US) |
|---|---|
| Pages (from-to) | 2074-2079 |
| Number of pages | 6 |
| Journal | Movement Disorders |
| Volume | 23 |
| Issue number | 14 |
| DOIs | |
| State | Published - Oct 30 2008 |
| Externally published | Yes |
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Keywords
- Autosomal recessive early-onset Parkinsonism
- DJ-1
- Mutations
- Parkin
- PINK1
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. / Guo, Ji Feng; Xiao, Bin; Liao, Bing; Zhang, Xue Wei; Nie, Li Luo; Zhang, Yu Hu; Shen, Lu; Jiang, Hong; Xia, Kun; Pan, Qian; Yan, Xin Xiang; Tang, Bei Sha.
In: Movement Disorders, Vol. 23, No. 14, 30.10.2008, p. 2074-2079.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism
AU - Guo, Ji Feng
AU - Xiao, Bin
AU - Liao, Bing
AU - Zhang, Xue Wei
AU - Nie, Li Luo
AU - Zhang, Yu Hu
AU - Shen, Lu
AU - Jiang, Hong
AU - Xia, Kun
AU - Pan, Qian
AU - Yan, Xin Xiang
AU - Tang, Bei Sha
PY - 2008/10/30
Y1 - 2008/10/30
N2 - 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.
AB - 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.
KW - Autosomal recessive early-onset Parkinsonism
KW - DJ-1
KW - Mutations
KW - Parkin
KW - PINK1
UR - http://www.scopus.com/inward/record.url?scp=57049185760&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=57049185760&partnerID=8YFLogxK
U2 - 10.1002/mds.22156
DO - 10.1002/mds.22156
M3 - Article
VL - 23
SP - 2074
EP - 2079
JO - Movement Disorders
JF - Movement Disorders
SN - 0885-3185
IS - 14
ER -