Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
Nguyen Dang TonNguyen Duc ThuanMa Thi Huyen ThuongTran Thi Bich NgocVu Phuong NhungNguyen Thi Thanh HoaNguyen Hoai NamHoang Thi DungNhu Dinh SonNguyen Van BaNguyen Duy BacTran Ngoc TaiLe Thi Kim DungNguyen Trong HungNguyen Thuy DuongNguyen Hai HaNong Van HaiPublished in: Molecular genetics & genomic medicine (2020)
Three rare and three novel mutations in total of 14 variants of PARKIN and PINK1 were detected in the EOPD cohorts. Mutations of PRKN and PINK1 genes were found in five (4.4%) patients, which were four patients with compound heterozygous variants in the PRKN and one case with a homozygous mutation of the PINK1 gene. The novel mutations might reduce the stability of the PRKN and PINK1 protein molecules. The frequency of homozygous mutant genotype p.A340T of the PINK1 in the EOPD cohort was higher than in control (p = 0.0001, OR = 5.704), suggesting this variant might be a risk factor for EOPD. To the best of our knowledge, this is the first study of PRKN and PINK1 genes conducted on Vietnamese EOPD patients. These results might contribute to the genetic screening of EOPD in Vietnam.