ArticleMolecular genetics & genomic medicine2018
Molecular characterization of PRKN structural variations identified through whole-genome sequencing.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.NPJ Parkinson's disease · 2024Article
- The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.International journal of molecular sciences · 2022Review
- Levodopa-responsive dystonia caused by biallelicBrain communications · 2021Article
- Review
- Transposable Elements, Inflammation, and Neurological Disease.Frontiers in neurology · 2019Review
- Molecular characterization of PRKN structural variations identified through whole-genome sequencing.Molecular genetics & genomic medicine · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundEarly-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.
methodsIn 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.
resultsFive 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.
conclusionWe concluded that all identified PRKN SVs might originate through retrotransposition events.
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