Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.

ABSTRACT:

Background

Biallelic mutations in the PRKN gene are a common cause of early-onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.

Objectives

By using short-read whole genome sequencing (sr-WGS), we aimed to uncover complex genetic alterations at the PRKN locus in EOPD cases which tested negative for mutations in Mendelian PD genes with clinical exome sequencing (CES) and multiplex ligation-dependent probe amplification (MLPA).

Methods

We evaluated 498 unrelated EOPD patients, who tested negative using gold-standard diagnostic methods, using sr-WGS. In selected cases, long-read whole genome sequ

SUBMITTER: Fant A 

PROVIDER: S-EPMC12710201 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature