Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease
oleh: Kuan Fan, Pengzhi Hu, Chengyuan Song, Xiong Deng, Jie Wen, Yiming Liu, Hao Deng
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2019-01-01 |
Deskripsi
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.