Molecular characterization of PRKN structural variations identified through whole-genome sequencing.

ABSTRACT:

Background

Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of the reported PD patients and with higher frequency in specific ethnicities, are the most prevalent PRKN mutations reported to date in PD patients.

Methods

In this study, three consanguineous families with early-onset PD were subjected to whole-genome sequencing (WGS) analyses that were followed by Sanger sequencing and droplet digital PCR to validate and confirm the disease segregation of the identified genomic variations and to determine their parental origin.

Results

Five different PRKN structural variations (SVs) were identified. Because the genomic seque

SUBMITTER: Bravo P 

PROVIDER: S-EPMC6305656 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature