English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

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.

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