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

الملخص EN

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.