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

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.

SUBMITTER: Fan K

PROVIDER: S-EPMC6942881 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Fan Kuan K Hu Pengzhi P Song Chengyuan C Deng Xiong X Wen Jie J Liu Yiming Y Deng Hao H

Parkinson's disease 20191223

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 < ...[more]

PMID: 31929871

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