Although the exact cause of Parkinson’s disease (PD) remains unknown, genetic and environmental factors have been found to play an important role in the pathogenesis of PD (Jankovic and Tan 2020). Genetic testing for PD has become more common in clinical practice, particularly in individuals with early-onset or a family history of PD, offering opportunities for the patients to participate in clinical trials targeting specific genes and providing valuable insights into molecular pathways involved in the disease (Bandres-Ciga et al., 2020).

Ubiquinol-cytochrome c reductase core protein 1 gene (UQCRC1) contains 13 exons and encodes a protein component of the mitochondrial respiratory chain complex III (Hoffman et al., 1993). The missense variant p.Y314S in UQCRC1 has been demonstrated to be a pathogenic variant associated with autosomal dominant PD combined with polyneuropathy (Lin et al., 2019). Subsequent functional and in vivo studies further confirmed the pathogenicity of the variant (Lin et al., 2020a). However, the association between rare variants of UQCRC1 and PD was not confirmed in other cohorts (Courtin et al., 2021, Liao et al., 2022). Thus, we performed a mutation screening of UQCRC1 in our Chinese cohort of patients with early-onset PD (EOPD).