title: Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
abstract: Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with early-onset Parkinsonism. The aim of this study was to address the genetic contribution of RAB39B in early-onset and familial Parkinson's disease (PD) in a Taiwanese population. Among 466 subjects, we sequenced both the exons and exon-intron boundaries of RAB39B from 235 patients with early-onset PD (age of onset <50 years), 119 probands with familial PD, and 112 ethnicity-matched control subjects. We did not find any coding variants or previously reported mutations, suggesting that RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population.
authors.affiliation: College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Hsien-Han
authors.initials: HH
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Han-I
authors.initials: HI
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Meng-Ling
authors.initials: ML
authors.lastname: Chen
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Chun-Hwei
authors.initials: CH
authors.lastname: Tai
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: chlin@ntu.edu.tw.
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D013624:Taiwan / Q000453:epidemiology; D055815:Young Adult; D051844:alpha-Synuclein / Q000378:metabolism; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein; C547812:Rab39B protein, human; D020691:rab GTP-Binding Proteins
keywords: Chinese; Parkinson's disease; RAB38B; Ras-related protein; Taiwanese