Dataset Information
Molecular characterization of PRKN structural variations identified through whole-genome sequencing.
Ontology highlight
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 sequences surrounding the break points of the identified SVs might hold important information about their genesis, these were also characterized for the presence of homology and repeated sequences.Conclusion
We concluded that all identified PRKN SVs might originate through retrotransposition events.
SUBMITTER: Bravo P
PROVIDER: S-EPMC6305656 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
Molecular characterization of PRKN structural variations identified through whole-genome sequencing.
Molecular genetics & genomic medicine 20181016 6
<h4>Background</h4>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.<h4>Methods</h4>In this study, three consanguineous families with early-onset PD were subjected to whole-genome sequencing (WGS) ana ...[more]