Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
J Parkinsons Dis. 2022;12(6):1917-1920. doi: 10.3233/JPD-223337.
Homozygous missense variants in PTRHD1 have been identified to cause parkinsonism by segregation analysis in families. Further replication in the Parkinson's disease (PD) population might provide additional insight. Here, we analyzed the rare variants in a Chinese PD cohort (Ncase = 1367, Ncontrol = 3298) with whole exome sequencing. We did not identify the variants described in previous studies, and no patient carried other homozygous or compound heterozygous variants of PTRHD1. Three rare variants were identified, but rare variants of PTRHD1 were not enriched in PD. Genetic screening suggested rare variants of PTRHD1 as disease cause were rare in PD in East Asians.
通过家系分离分析，已发现 PTRHD1 中的纯合错义变异可导致帕金森病。在帕金森病（PD）人群中进一步复制可能会提供更多的见解。在这里，我们通过外显子组测序分析了一个中国 PD 队列中的罕见变异（Ncase=1367，Ncontrol=3298）。我们没有发现以前研究中描述的变异，也没有患者携带 PTRHD1 的其他纯合或复合杂合变异。虽然鉴定出了三个罕见变异，但 PTRHD1 的罕见变异在 PD 中并未富集。遗传筛查表明，东亚 PD 中 PTRHD1 的罕见变异作为疾病原因很少见。
