Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease-Reference-Cited by-同舟云学术

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease

Published:2019-12-23 Issue: Volume:2019 Page:1-6
ISSN:2090-8083
Container-title:Parkinson's Disease
language:en
Short-container-title:Parkinson's Disease

Author:

Fan Kuan¹²^ORCID,Hu Pengzhi¹³^ORCID,Song Chengyuan⁴^ORCID,Deng Xiong¹^ORCID,Wen Jie¹^ORCID,Liu Yiming⁴^ORCID,Deng Hao¹⁵^ORCID

Affiliation:

1. Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China

2. Department of Neurology, Guizhou Provincial People’s Hospital, Guiyang, China

3. Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China

4. Department of Neurology, The Qilu Hospital, Shandong University, Jinan, China

5. Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China

Abstract

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.

Funder

National Key Research and Development Program of China

Publisher

Hindawi Limited

Subject

Psychiatry and Mental health,Clinical Neurology,Neuroscience (miscellaneous)

Link

http://downloads.hindawi.com/journals/pd/2019/9024894.pdf

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