title: Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population.
abstract: Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (EOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People's Republic of China.
authors.forename: Jin-yong
authors.initials: JY
authors.lastname: Tian
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Chang-he
authors.initials: CH
authors.lastname: Shi
authors.forename: Zhan-yun
authors.initials: ZY
authors.lastname: Lv
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.forename: Ri-li
authors.initials: RL
authors.lastname: Yu
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human