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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia

Author
Riess, Olaf
Lohmann, Ebba
Poths, Sven
Schroeder, Christopher
Grundmann, Kathrin
Pogoda, Michaela
Hilke, Franz-Joachim
Sturm, Marc
Lenz, Florian
Matthes, Jakob
Muyas, Francesc
Ossowski, Stephan
Hoischen, Alexander
Faust, Ulrike
Sepahi, Ilnaz
Casadei, Nicolas
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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.
URI
http://hdl.handle.net/20.500.12627/107421
https://doi.org/10.3389/fneur.2019.01332
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Creative Commons Lisansı

İstanbul Üniversitesi Akademik Arşiv Sistemi (ilgili içerikte aksi belirtilmediği sürece) Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

DSpace software copyright © 2002-2016  DuraSpace
Contact Us | Send Feedback
Theme by 
Atmire NV