Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing Article Swipe
Mirja Thomsen
,
Fabian Ott
,
Sebastian Loens
,
Gamze Kilic‐Berkmen
,
Ai Huey Tan
,
Shen‐Yang Lim
,
Ebba Lohmann
,
Katrin Schröder
,
Lea Ipsen
,
Lena A. Nothacker
,
Linn Welzel
,
Agata Rudnik
,
Frauke Hinrichs
,
Thorsten Odorfer
,
Kirsten E. Zeuner
,
Friederike Schumann
,
Andrea A. Kühn
,
Simone Zittel
,
Marius E. Moeller
,
Robert M. Pfister
,
Christoph Kamm
,
Anthony E. Lang
,
Yi Wen Tay
,
Ana Luísa de Almeida Marcelino
,
Marie Vidailhet
,
Emmanuel Roze
,
Joel S. Perlmutter
,
Jeanne Feuerstein
,
Victor S.C. Fung
,
Florence Chang
,
Richard L. Barbano
,
Steven Bellows
,
Aparna Wagle Shukla
,
Alberto J. Espay
,
Mark S. LeDoux
,
Brian D. Berman
,
Stephen G. Reich
,
Andres Deik
,
Andre Franke
,
Michael Wittig
,
Sören Franzenburg
,
Jens Volkmann
,
Norbert Brüggemann
,
H. A. Jinnah
,
Tobias Bäumer
,
Christine Klein
,
Hauke Busch
,
Katja Lohmann
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.70100
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.70100
Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex. Methods Exome sequencing was conducted on 1924 genetically unsolved, mainly late‐onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia ( n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible. Results We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG criteria) across 51 genes in 163/1924 patients, including 153/1895 index patients (diagnostic yield 8.1%). The strongest predictors of a genetic diagnosis were generalized dystonia (28.6% yield) and age at onset (20.4% yield in patients with onset < 30 years). Notably, 56.2% of these variants were novel, with recurrent variants in EIF2AK2 , VPS16 , KCNMA1 , and SLC2A1 . Additionally, 321 index patients (16.9%) harbored variants of uncertain significance in 102 genes. The most frequently implicated genes included VPS16 , THAP1 , GCH1 , SGCE , GNAL , and KMT2B. Presumably pathogenic variants in less well‐established dystonia genes were also found, including KCNMA1 , KIF1A , and ZMYND11. At least six variants (in ADCY5 , GNB1 , IR2BPL, KCNN2 , KMT2B , and VPS16 ) occurred de novo, supporting pathogenicity. Interpretation This study provides valuable insights into the genetic landscape of dystonia, underscores the utility of exome sequencing for diagnosis, substantiates several candidate genes, and expands the phenotypic spectrum of some genes to include prominent, sometimes isolated dystonia.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/acn3.70100
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.70100
- OA Status
- gold
- Cited By
- 3
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4411464073
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4411464073Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/acn3.70100Digital Object Identifier
- Title
-
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome SequencingWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-06-18Full publication date if available
- Authors
-
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Katrin Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Agata Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius E. Moeller, Robert M. Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne Feuerstein, Victor S.C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen G. Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja LohmannList of authors in order
- Landing page
-
https://doi.org/10.1002/acn3.70100Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.70100Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.70100Direct OA link when available
- Concepts
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Exome sequencing, Medicine, Phenotype, Dystonia, Computational biology, Evolutionary biology, Diversity (politics), Exome, Genetic diversity, Genetics, Bioinformatics, Gene, Biology, Psychiatry, Population, Anthropology, Environmental health, SociologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3Per-year citation counts (last 5 years)
- References (count)
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36Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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