Clinical Characteristics and Genetic Testing of A Pedigree with Early-onset Parkinson's Disease Caused by <i>PRKN</i> Gene Mutation

Shusheng LIAO; Hong CHEN; Mei LIU; Chengyu PAN; Aidi LUO; Li ZHANG

doi:10.12259/j.issn.2095-610X.S20230504

Volume 44 Issue 5

May 2023

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Article Navigation > Journal of Kunming Medical University > 2023 > 44(5): 66-71

Shusheng LIAO, Hong CHEN, Mei LIU, Chengyu PAN, Aidi LUO, Li ZHANG. Clinical Characteristics and Genetic Testing of A Pedigree with Early-onset Parkinson's Disease Caused by PRKN Gene Mutation[J]. Journal of Kunming Medical University, 2023, 44(5): 66-71. doi: 10.12259/j.issn.2095-610X.S20230504

Citation:

Shusheng LIAO, Hong CHEN, Mei LIU, Chengyu PAN, Aidi LUO, Li ZHANG. Clinical Characteristics and Genetic Testing of A Pedigree with Early-onset Parkinson's Disease Caused by PRKN Gene Mutation[J]. Journal of Kunming Medical University, 2023, 44(5): 66-71. doi: 10.12259/j.issn.2095-610X.S20230504

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Clinical Characteristics and Genetic Testing of A Pedigree with Early-onset Parkinson's Disease Caused by PRKN Gene Mutation

doi: 10.12259/j.issn.2095-610X.S20230504

Shusheng LIAO^{1, 2},
Hong CHEN¹,
Mei LIU²,
Chengyu PAN²,
Aidi LUO²,
Li ZHANG^{2
,
,}

1.
Dept. of Neurology，Liuzhou People’s Hospital Affiliated to Guangxi Medical University，Liuzhou Guangxi 545006
2.
Dept. of Neurology，The Affiliated Hospital of Zunyi Medical University，Zunyi Guizhou 563003，China

Received Date: 2023-01-17
Available Online: 2023-05-12
Publish Date: 2023-05-25

Abstract

Abstract

Objective To investigate the clinical characteristics and gene mutations of 2 patients in 2 families of autosomal recessive early-onset Parkinson’s disease （AREP）. Methods Clinical data and gene mutation analysis were performed on 2 patients from 2 Chinese Han families. Target capture and high-throughput sequencing were used to screen genes related to Parkinson’s disease （PD）, tremor, spinocerebellar ataxia, and dystonia; Multiple ligation-dependent probe amplification （MLPA） was used to detect the rearrangement and large deletion mutations of SNCA, LRRK2, PARK2, PINK1, PARK7, ATP13A2, UCHL1, GCH1 gene exons. Results 2 patients with clinically confirmed PD showed the obvious clinical and genetic heterogeneity. Gene detection found that there were two mutations in the PRKN gene exon 2 heterozygous deletion mutation and c.619G > T/p.Glu207Ter * heterozygous mutation in the patient of family 1. The compound heterozygous mutation was pedigree cosegregated in the family. The patients of pedigree 2 had homozygous deletion mutation in exon 3-4 of PRKN gene, and had heterozygous mutation in LRRK2 gene c.4827+6T > A, and heterozygous mutation in PINK1 gene c.1474C > T/p.Arg492*; Bioinformatics analysis found that the c.4827+6T > A mutation of LRRK2 gene may lead to its shear change. Conclusion The clinical manifestations and gene mutations of early-onset Parkinson’s disease caused by PRKN gene mutations are diverse; AREP patients may have multiple PD gene pathogenic mutations at the same time, and their clinical onset age is earlier, the symptoms are more severe and complex, and the disease progresses are faster.
- Early onset Parkinson’s disease,
- PRKN gene,
- LRRK2 gene,
- PINK1 gene

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References(18)

References

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