LAUSR

previously reported benign variants (Supplementary Table 4), suggesting that the identified VPS13C deletion might contribute to the CMT phenotype seen in our patient, which might help with the diagnosis of prospective VPS13C patients. In summary, we report the identification and characterization of a large L1 retrotransposition-mediated VPS13C deletion in a patient with parkinsonism, further confirming the role of the VPS13C in the pathogenesis of PD. This is the first large deletion identified and reported in the VPS13C gene. In addition to the strong effect of the identified mutation on the protein, our patient showed normal cognitive status and a milder clinical picture than that observed in previously reported patients. Last, the hypothesis that the identified VPS13C deletion might be responsible for the CMT phenotype seen in our patient needs to be further explored, as it also might be caused by mutations in an unknown CMT gene.