Utility and implications of exome sequencing in early-onset Parkinson's disease.

ABSTRACT:

Background

Although the genetic load is high in early-onset Parkinson's disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients with early-onset PD.

Methods

We searched for variants either within genes listed by the International Parkinson and Movement Disorder Society Task Force on Genetic Nomenclature or rare homozygous variants in novel candidate genes. Further, exome data from 1148 European PD patients (International Parkinson Disease Genomics Consortium) were used for association testing.

Results

Seven patients (14%) carried pathogenic or likely pathogenic variants in Parkin, PLA2G6, o

SUBMITTER: Trinh J 

PROVIDER: S-EPMC8950081 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature