Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease
Genetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous var...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
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| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.1155/2019/9024894 |
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| _version_ | 1832556570530021376 |
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| author | Kuan Fan Pengzhi Hu Chengyuan Song Xiong Deng Jie Wen Yiming Liu Hao Deng |
| author_facet | Kuan Fan Pengzhi Hu Chengyuan Song Xiong Deng Jie Wen Yiming Liu Hao Deng |
| author_sort | Kuan Fan |
| collection | DOAJ |
| description | Genetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene. |
| format | Article |
| id | doaj-art-b8247295370045c2b3883eab92c9761e |
| institution | Kabale University |
| issn | 2090-8083 2042-0080 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Parkinson's Disease |
| spelling | doaj-art-b8247295370045c2b3883eab92c9761e2025-02-03T05:44:59ZengWileyParkinson's Disease2090-80832042-00802019-01-01201910.1155/2019/90248949024894Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s DiseaseKuan Fan0Pengzhi Hu1Chengyuan Song2Xiong Deng3Jie Wen4Yiming Liu5Hao Deng6Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Qilu Hospital, Shandong University, Jinan, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, The Qilu Hospital, Shandong University, Jinan, ChinaCenter for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, ChinaGenetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.http://dx.doi.org/10.1155/2019/9024894 |
| spellingShingle | Kuan Fan Pengzhi Hu Chengyuan Song Xiong Deng Jie Wen Yiming Liu Hao Deng Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease Parkinson's Disease |
| title | Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease |
| title_full | Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease |
| title_fullStr | Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease |
| title_full_unstemmed | Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease |
| title_short | Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease |
| title_sort | novel compound heterozygous prkn variants in a han chinese family with early onset parkinson s disease |
| url | http://dx.doi.org/10.1155/2019/9024894 |
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