Session Information
Date: Tuesday, June 21, 2016
Session Title: Parkinson's disease: Genetics
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population.
Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been reported to be the causative factors of familial Parkinson’s disease (PD).
Methods: The coding region and exon-intron boundaries of RAB39B gene were genotyped in 180 probands including 100 AD and 80 AR PD patients by Sanger sequencing. In addition, sequencing analysis of 30 patients from unrelated families (8 with AD and 7 with AR inheritance, 2 patients per family) were also performed by WES (Beijing Genomics institution, BGI).
Results: According to the result of analysis, no variant in RAB39B gene was identified in 180 probands by Sanger sequencing, while in another 30 individuals sequenced by WES, no mutation was detected in the whole gene. At the same time, the missense mutations c.503C>A and c.574G>A in RAB39B reported by Wilson and Mata were not found in any of our 210 individuals.
Conclusions: Our results suggest that RAB39B mutation is very rare in familial PD, which may not be a common cause of PD in Chinese Han Population.
To cite this abstract in AMA style:
J.F. Guo, J.F. Kang, X.X. Yan, B.S. Tang. No RAB39B gene mutations in Chinese familial Parkinson’s disease [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/no-rab39b-gene-mutations-in-chinese-familial-parkinsons-disease/. Accessed May 13, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/no-rab39b-gene-mutations-in-chinese-familial-parkinsons-disease/