Session Information
Date: Wednesday, June 7, 2017
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: To examine the genetic contribution of RAB39B to early-onset and familial PD in a Taiwanese population.
Background: Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction [1]. Postmortem examination of the brain biopsy
from a patient carrying the gene deletion revealed widespread a-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with
early-onset Parkinsonism.
Methods: A total of 466 participants were enrolled in this study, including 119 PD patients with a family history, 235 sporadic early-onset PD patients (age of onset <50 years), and 112 control subjects.
Informed consent was obtained from each participant. Mutations of previously reported causative genes for PD were excluded. Both exons and intron-exon boundaries of RAB39B were amplified
by PCR and then Sanger sequenced.
Results: The mean age of onset among early-onset PD patients was 41.9 years (range 14-49 years). For familial PD patients, the mean age of onset was 57.7 years (range 19-84 years). We did not identify any
exonic variants or previously reported mutations in our familial or early-onset PD patients.
Conclusions: Our results suggest that RAB39B gene may not play a major role in familial and sporadic PD patients without atypical features in our population.
References: 1. Wilson, G.R., Sim, J.C., McLean, C., Giannandrea, M., Galea, C.A., Riseley, J.R., Stephenson, S.E., Fitzpatrick, E., Haas, S.A., Pope, K., Hogan, K.J., Gregg, R.G., Bromhead, C.J., Wargowski, D.S., Lawrence, C.H., James, P.A., Churchyard, A., Gao, Y., Phelan, D.G., Gillies, G., Salce, N., Stanford, L., Marsh, A.P., Mignogna, M.L., Hayflick, S.J., Leventer, R.J., Delatycki, M.B., Mellick, G.D., Kalscheuer, V.M., D’Adamo, P., Bahlo, M., Amor, D.J., Lockhart, P.J., 2014. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology. Am. J. Hum. Genet. 95, 729-735.
To cite this abstract in AMA style:
C.-H. Lin, H.-H. Lin, R.-M. Wu, H.-I. Lin. Genetic analysis of RAB39B mutations in early-onset and familial Parkinson’s Disease in a Taiwanese population. [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/genetic-analysis-of-rab39b-mutations-in-early-onset-and-familial-parkinsons-disease-in-a-taiwanese-population/. Accessed June 15, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-analysis-of-rab39b-mutations-in-early-onset-and-familial-parkinsons-disease-in-a-taiwanese-population/