Parkin基因复合杂合突变的早发型帕金森病的临床特点(附1例报告)

Clinical features of early-onset Parkinson’s disease induced by compound heterozygous mutation of Parkin gene (report of 1 case)

目的探讨Parkin基因复合杂合突变的早发型帕金森病的临床特点。方法回顾性分析1例Parkin基因复合杂合突变早发型帕金森病患者的临床资料,并进行文献复习。结果患者为47岁女性,24年前开始出现运动迟缓、四肢僵硬、震颤。全外显子组基因检测显示,患者Parkin基因存在2处基因突变,c.8TA杂合突变导致其编码蛋白发送p.V3E错义突变;c.850GC杂合突变导致其编码蛋白发生p.G284R错义突变。家系验证结果显示,两处突变分别来自于父母,其余直系亲属均只携带一处杂合突变。结论Parkin基因复合杂合突变的早发型帕金森病患者表现为逐渐进展的四肢僵硬、震颤、运动迟缓为主的运动症状。Parkin基因复合杂合突变导致的编码蛋白错义突变可能是PD的重要病因。

Objective To explore the clinical features of early-onset Parkinson’s disease with compound heterozygous mutations in the Parkin gene.Methods Clinical data of 1 early-onset Parkinson’s disease patient with compound heterozygous mutation of Parkin gene was retrospectively analyzed,and reviewed the related literature.Results The patient was a 47-year-old female,who began to experience motor retardation,limb stiffness and tremor 24 years ago.The main clinical characteristics were stiffness,tremor and slow movement.Whole-exome sequencing showed that the Parkin gene had two heterozygous mutations.c.8 TA heterozygous mutation caused the encoded protein to send p.V3 E missense mutation;c.850 GC heterozygous mutation led to the missense mutation of its encoded protein p.G284 R.Family gene verification showed that the two mutations were from their parents,and all the other immediate relatives just carried one heterozygous mutation.Conclusions Early-onset Parkinson’s disease patients with Parkin gene complex heterozygous mutations show progressive limb stiffness,tremor and bradykinesia.The missense mutation of coding protein caused by Parkin gene complex heterozygous mutation may be an important cause of PD.