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Molecular Characterization of Prkn Structural Variations Identified Through Whole-Genome Sequencing Publisher Pubmed



Bravo P1 ; Darvish H2 ; Tafakhori A3 ; Azcona LJ1, 4 ; Johari AH2 ; Jamali F2 ; Paisanruiz C1, 5, 6, 7, 8
Authors
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Authors Affiliations
  1. 1. Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
  2. 2. Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran
  3. 3. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Neurosciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
  5. 5. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
  6. 6. Department of Genetics and Genomic sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
  7. 7. The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
  8. 8. The Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States

Source: Molecular Genetics and Genomic Medicine Published:2018


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. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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