Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Neurology, National Taiwan University Hospital Beihu Branch, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Neurobiol Aging. 2021 Apr;100:118.e15-118.e16. doi: 10.1016/j.neurobiolaging.2020.09.002. Epub 2020 Sep 8.
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.
最近在有血缘关系的伊朗和非洲家族中发现了含有肽基-tRNA 水解酶结构域 1 (PTRHD1) 基因的突变，这些家族患有青少年帕金森病和智力残疾。然而，PTRHD1 突变在该疾病中的致病性及其在早发性帕金森病 (PD) 中的作用仍不清楚。我们旨在研究 PTRHD1 突变在台湾早发性和家族性 PD 患者中的作用。我们招募了 464 名参与者，包括 178 名来自 PD 家系且无已知 PD 致病基因突变的先证者和 286 名早发性 PD 患者（发病年龄 <50 岁）。通过 Sanger 测序分析了 PTRHD1 的所有外显子和外显子-内含子边界连接。我们没有发现任何致病性编码变异或先前报道的突变，这表明 PTRHD1 突变在我们人群中的早发性和家族性 PD 中很少见。
