A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients
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DOI：
10.1016/j.neulet.2018.03.017
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发表时间：
2018-05-01
影响因子：
2.5
通讯作者：
Liu, Chun-feng
中科院分区：
文献类型：
--
作者：
Jin, Hong;Chen, Jing;Liu, Chun-feng
目的：葡萄糖脑苷脂酶（GBA）基因的致病性突变与帕金森病（PD）相关，其中L444 P和N370 S在PD患者中最常见。本研究的目的是系统地探讨GBA编码区的变异在汉族PD患者，以及扩大GBA的突变spectrum.Material和方法：共213例汉族PD患者和348名对照参加了这项研究。捕获GBA的整个编码区并通过靶区域测序进行测序。桑格测序也被用来确认所鉴定的变异。C646 A; p.L216I; NM_001171811.1）的GBA，这在对照组中未观察到。两名患者均患有早发性PD，均未表现出任何运动相关症状。然而，我们没有发现L444 P或N370 S突变在我们的patients.Conclusions：p.L216I突变是一种新的GBA突变，我们发现在两个汉族PD患者。这些患者表现出类似的特征，与其他GBA突变患者不同。未来的工作需要进一步研究这种突变，以及更大的队列研究，以探索中国汉族和其他人群中与PD相关的其他GBA突变。
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.