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

Paloma Bravo, Hossein Darvish, Abbas Tafakhori, Luis J. Azcona, Amir Hossein Johari, Faezeh Jamali, Coro Paisán-Ruiz

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish
Pages (from-to)1243-1248
Number of pages6
JournalMolecular genetics & genomic medicine
Issue number6
StatePublished - Nov 2018


  • PRKN
  • Parkinson’s disease
  • retrotransposition
  • structural variations
  • whole-genome sequencing


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