Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.
BACKGROUND
The PARK2 gene was recently identified as a causative gene for autosomal recessive early-onset Parkinson's disease (EOPD). Studies on how specific PARK2 mutations are manifested on different genetic backgrounds may benefit prognosis and clinical management. Until now, there have been no reports of PARK2 mutations in a Uyghur family with EOPD.


METHODS
We identified a large Uyghur EOPD family with PARK2 mutations, and analyzed genealogical, clinical, and genetic data from the family.


RESULTS
Three of 15 members were diagnosed with EOPD, and two point mutations, c.951G>C (p.G284R) and c.924C>T (p.R275W), were found in six family members. Among the mutation-positive members, the three affected members were compound heterozygote, while the three unaffected members were single heterozygote.


CONCLUSIONS
This is the first report describing a Uyghur family with PARK2 mutations. The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family.
The Xinjiang Clinical Medical College, An Hui Medical University, China; Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Hongyan
H
Li
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Aishanjiang
A
Yusufujiang
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Shaliya
S
Naser
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China. Electronic address: zhuyixinjiang@sina.com.
Yi
Y
Zhu
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Mayinur
M
Maimaiti
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Xiaoyan
X
He
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Juan
J
Bu
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Xuegang
X
Meng
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Mingyuan
M
Wang
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Jiang
J
Li
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Baiting
B
Dina
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Lijuan
L
Yang
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Zuhere
Z
Nayi
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Hui
H
Dang
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Chengfeng
C
Wang
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Dilimulati
D
Amiti
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Asiya
A
Aji
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Nazuke
N
Yusufu
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Yan
Y
Jiao
Department of Neurology, The Xinjiang Uygur Autonomous Region People's Hospital, China.
Fengmei
F
Duan
D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein
China; Early-onset Parkinson's disease (EOPD); Parkin gene (PARK2); Uyghur; p.G284R mutation; p.R275W mutation