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.

中文翻译：

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汉族早期帕金森氏病家庭的新型复合杂合PRKN变异体。

人们认为遗传因素在帕金森氏病（PD）的发病机理中起着重要作用，尤其是早发性PD。该PRKN基因是早发PD的主要致病基因。其功能的细节仍不清楚。这项研究确定了患有早发性PD的汉族家庭中PRKN基因的新型复合杂合变异体（p.T240K和p.L272R）。这一发现有助于PD的遗传诊断以及PRKN基因的功能研究。