title: Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population.
abstract: The Grb10-Interacting GYF Protein-2 gene (GIGYF2), located in the chromosomal region 2q36-q37, has been reported as a PARK11 gene with a causal role in familial Parkinson's disease (PD) in Italian and French populations. However, there is no comprehensive study of GIGYF2 gene conducted in Chinese patients with PD from mainland China. The 27 coding exons and intron/exon boundaries of the GIGYF2 gene were sequenced in 300 sporadic patients with Parkinson's disease. Eight heterozygous and one homozygous novel missense variants were identified in nine patients with PD, and not in 300 controls. p.Leu580Phe locates in the GYF domain and might interrupt the potentially function of GIGYF2 protein. Another variant Gln979stop encodes a truncated protein. In conclusion, we identified nine novel variants in GIGYF2 gene, which might be associated with PD in the Chinese population.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Wen-wen
authors.initials: WW
authors.lastname: Zhang
authors.forename: Qian
authors.initials: Q
authors.lastname: Xu
authors.forename: Xing
authors.initials: X
authors.lastname: Zuo
authors.forename: Chang-he
authors.initials: CH
authors.lastname: Shi
authors.forename: Lin-zi
authors.initials: LZ
authors.lastname: Luo
authors.forename: Jia
authors.initials: J
authors.lastname: Liu
authors.forename: Liang
authors.initials: L
authors.lastname: Hu
authors.forename: Ya-cen
authors.initials: YC
authors.lastname: Hu
authors.forename: Lu
authors.initials: L
authors.lastname: She
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C478016:GIGYF2 protein, human