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

Michaela Pogoda¹, Franz-Joachim Hilke^1,2, Ebba Lohmann^3,4,5

¹Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Frontiers in Neurology

|January 11, 2020

Summary

This study screened dystonia patients for ATM gene variants using novel sequencing technology. While pathogenic ATM mutations are rare in dystonia, identifying them is vital for diagnosing tumor predisposition syndromes.

Keywords:

ATM MIPs NGS ataxia-telangiectasia dystonia

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Area of Science:

Genetics
Neurodegenerative Diseases
Oncology

Background:

Dystonia is a complex neurological disorder with a genetic component.
The ATM gene is implicated in DNA repair and has been linked to cancer predisposition syndromes.
Investigating ATM variants in dystonia patients can uncover potential co-occurring conditions.

Purpose of the Study:

To screen a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene.
To evaluate a new, cost-efficient enrichment technology (smMIPs) for next-generation sequencing (NGS) based screening.
To assess the role of ATM variants in the genetic landscape of dystonia.

Main Methods:

Targeted enrichment and sequencing of all ATM gene coding exons and exon-intron boundaries using single molecule Molecular Inversion Probes (smMIPs).
Analysis of 373 dystonia patients and six positive controls with known ATM variants.
Inclusion of a rare-variant association study.

Main Results:

One patient (0.3%) presented with compound heterozygous ATM variants.
Twenty-one patients were identified as carriers of variants of unknown significance (VUS) in the ATM gene.
The smMIPs approach yielded results comparable to established NGS methods.

Conclusions:

ATM gene analysis should be integrated into routine genetic testing for dystonia patients.
Excluding pathogenic ATM variants is critical for identifying potential tumor predisposition syndromes.
Single molecule Molecular Inversion Probes (smMIPs) are reliable and suitable for germline screening in rare neurodegenerative conditions.