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

Kuan Fan; Pengzhi Hu; Chengyuan Song; Xiong Deng; Jie Wen; Yiming Liu; Hao Deng

doi:10.1155/2019/9024894

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

Parkinsons Dis. 2019 Dec 23:2019:9024894. doi: 10.1155/2019/9024894. eCollection 2019.

Authors

Kuan Fan^{1

2}, Pengzhi Hu^{1

3}, Chengyuan Song⁴, Xiong Deng¹, Jie Wen¹, Yiming Liu⁴, Hao Deng^{1

5}

Affiliations

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.