A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients

作者：Jin, Hong; Chen, Jing; Li, Kai; Zhang, Jin-ru; Gu, Chen-chen; Mao, Cheng-jie; Yang, Ya-ping; Wang, Feng; Liu, Chun-feng^*

来源：Neuroscience Letters, 2018, 674: 66-69.

DOI：10.1016/j.neulet.2018.03.017

• Parkinson's disease
• GBA
• p.L216I
• Han Chinese

Objectives: Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD. The aim of this study was to systematically explore variations in the coding regions of GBA in Han Chinese patients with PD, as well as to expand the GBA mutation spectrum.
Material and methods: A total of 213 Han Chinese patients with PD and 348 controls were enrolled in the study. Whole coding regions of GBA were captured and sequenced by target region sequencing. Sanger sequencing was also used to confirm the identified variants.
Results: We identified a novel variant (c. C646A; p.L216I; NM_001171811.1) of GBA in two unrelated patients, which was not observed in the controls. Both patients had early-onset PD and neither exhibited any motor related symptoms. However, we did not find an L444P or N370S mutations in our patients.
Conclusions: The p.L216I mutation is a novel GBA mutation, which we identified in two Han Chinese patients with PD. The patients exhibited similar characteristics, which differed from those seen in patients with other GBA mutations. Future work is needed to investigate this mutation further, as well as larger cohort studies to explore other GBA mutations associated with PD in the Han Chinese and in other populations.

• 出版日期2018-5-1
• 单位苏州大学