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Single molecule molecular inversion probes for high throughput germline screenings in dystonia

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dc.contributor.author Pogoda, Michaela
dc.contributor.author Hilke, Franz-Joachim
dc.contributor.author Lohmann, Ebba
dc.contributor.author Sturm, Marc
dc.contributor.author Lenz, Florian
dc.contributor.author Matthes, Jakob
dc.contributor.author Muyas Remolar, Francesc, 1992-
dc.contributor.author Ossowski, Stephan
dc.contributor.author Hoischen, Alexander
dc.contributor.author Faust, Ulrike
dc.contributor.author Sepahi, Ilnaz
dc.contributor.author Casadei, Nicolas
dc.contributor.author Poths, Sven
dc.contributor.author Riess, Olaf
dc.contributor.author Schroeder, Christopher
dc.contributor.author Grundmann, Kathrin
dc.date.accessioned 2020-03-24T08:18:37Z
dc.date.available 2020-03-24T08:18:37Z
dc.date.issued 2019
dc.identifier.citation Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Single molecule molecular inversion probes for high throughput germline screenings in dystonia. Front Neurol. 2019; 10:1332. DOI: 10.3389/fneur.2019.01332
dc.identifier.issn 1664-2295
dc.identifier.uri http://hdl.handle.net/10230/44008
dc.description.abstract Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and sequencing of all protein coding exons and exon-intron boundaries of the ATM gene in 373 dystonia patients and six positive controls with known ATM variants. Additionally, a rare-variant association study was performed. Results: One patient (0.3%) was compound heterozygous and 21 others were carriers of variants of unknown significance (VUS) in the ATM gene. Although mutations in sporadic dystonia patients are not common, exclusion of pathogenic variants is crucial to recognize a potential tumor predisposition syndrome. SmMIPs produced similar results as routinely used NGS-based approaches. Conclusion: Our results underline the importance of implementing ATM in the routine genetic testing of dystonia patients and confirm the reliability of smMIPs and their usability for germline screenings in rare neurodegenerative conditions.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Frontiers
dc.relation.ispartof Front Neurol. 2019; 10:1332
dc.rights © 2019 Pogoda, Hilke, Lohmann, Sturm, Lenz, Matthes, Muyas, Ossowski, Hoischen, Faust, Sepahi, Casadei, Poths, Riess, Schroeder and Grundmann. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Single molecule molecular inversion probes for high throughput germline screenings in dystonia
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3389/fneur.2019.01332
dc.subject.keyword ATM
dc.subject.keyword MIPs
dc.subject.keyword NGS
dc.subject.keyword Ataxia-telangiectasia
dc.subject.keyword Dystonia
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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