A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.

ABSTRACT:

Background

Knowledge of the genetic background of many human diseases is currently lacking from genetically undiscovered regions, including Central Asia. Kazakhstan is the first Central Asian country where the genetic studies of Parkinson's disease (PD) have been emerging since it had become a member of the International Parkinson Disease Genomics Consortium. Here we report on the results of whole-exome sequencing (WES) in 50 young-onset PD (YOPD) cases from Kazakhstan.

Methodology

WES was performed on 50 unrelated individuals with YOPD from Kazakhstan. Exome data were screened for novel/ultra-rare deleterious variants in known and candidate PD genes. Copy number variants and small indels were also called.

Results

Only three cases (6%) were found to be positive for kn

SUBMITTER: Kaiyrzhanov R 

PROVIDER: S-EPMC8222829 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature