title: Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease.
abstract: CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients.
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wu
authors.affiliation: Department of Neurology, Zhejiang Hospital, 12 Lingyin Road, Hangzhou, Zhejiang Province 3100013, China.
authors.forename: Xingjiao
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Neurology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, 3 East Qingchun Road, Hangzhou, Zhejiang Province 310016, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xie
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Zhidong
authors.initials: Z
authors.lastname: Cen
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
authors.forename: Xiaosheng
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China. Electronic address: luoweirock@126.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000368:Aged; D044466:Asian People; D002681:China; D004268:DNA-Binding Proteins; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: Autosomal dominant Parkinson disease; CHCHD2; Chinese population; Parkinson disease