Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population

Mutations in the peptidyl-tRNA hydrolase domain containing 1 (PTRHD1) gene have been recently identified in consanguineous Iranian and African families with juvenile parkinsonism and intellectual disability. However, the pathogenicity of PTRHD1 mutations in the disease and their role in young-onset Parkinson's disease (PD) remains unclear. We aimed to investigate PTRHD1 mutations in a Taiwanese cohort with young-onset and familial PD. We enrolled 464 participants, including 178 probands from PD pedigrees without known PD-causative gene mutations and 286 patients with young-onset PD (age of onset <50 years). All exons and exon-intron boundary junctions of PTRHD1 were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, suggesting that PTRHD1 mutations are rare in young-onset and familial PD in our population.