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Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated.<\/jats:p>\n                  <jats:p>To significantly enhance our understanding of the genetic contribution to dystonia, we (re)analysed 2874 whole-exome sequencing (WES), 564 whole-genome sequencing (WGS), as well as 80 fibroblast-derived proteomics datasets, representing the output of high-throughput analyses in 1990 patients and 973 unaffected relatives from 1877 families. Recruitment and precision-phenotyping procedures were driven by long-term collaborations of international experts with access to overlooked populations.<\/jats:p>\n                  <jats:p>By exploring WES data, we found that continuous scaling of sample sizes resulted in steady gains in the number of associated disease genes without plateauing. On average, every second diagnosis involved a gene not previously implicated in our cohort. Second-line WGS focused on a subcohort of undiagnosed individuals with high likelihood of having monogenic forms of dystonia, comprising large proportions of patients with early onset (81.3%), generalized symptom distribution (50.8%) and\/or coexisting features (68.9%). We undertook extensive searches for variants in nuclear and mitochondrial genomes to uncover 38 (ultra)rare diagnostic-grade findings in 37 of 305 index patients (12.1%), many of which had remained undetected due to methodological inferiority of WES or pipeline limitations. WGS-identified elusive variations included alterations in exons poorly covered by WES, RNA-gene variants, mitochondrial-DNA mutations, small copy-number variants, complex rearranged genome structure and short tandem repeats. For improved variant interpretation in WGS-inconclusive cases, we employed systematic integration of quantitative proteomics. This aided in verifying diagnoses related to technically challenging variants and in upgrading a variant of uncertain significance (3 of 70 WGS-inconclusive index patients, 4.3%). Further, unsupervised proteomic outlier analysis supplemented with transcriptome sequencing revealed pathological gene underexpression induced by transcript disruptions in three more index patients with underlying (deep) intronic variants (3\/70, 4.3%), highlighting the potential for targeted antisense-oligonucleotide therapy development. Finally, trio-WGS prioritized a de novo missense change in the candidate PRMT1, encoding a histone methyltransferase. Data-sharing strategies supported the discovery of three distinct PRMT1 de novo variants in four phenotypically similar patients, associated with loss-of-function effects in in vitro assays.<\/jats:p>\n                  <jats:p>This work underscores the importance of continually expanding sequencing cohorts to characterize the extensive spectrum of gene aberrations in dystonia. We show that a pool of unresolved cases is amenable to WGS and complementary multi-omic studies, directing advanced aetiopathological concepts and future diagnostic-practice workflows for dystonia.<\/jats:p>","DOI":"10.1093\/brain\/awaf059","type":"journal-article","created":{"date-parts":[[2025,2,10]],"date-time":"2025-02-10T07:27:51Z","timestamp":1739172471000},"page":"2827-2846","source":"Crossref","is-referenced-by-count":31,"title":["Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia"],"prefix":"10.1093","volume":"148","author":[{"given":"Michael","family":"Zech","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]},{"name":"Institute for Advanced Study, Technical University of Munich , Garching 85748 ,","place":["Germany"]},{"name":"Bavarian Genomes Network for Rare Disorders , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Dzinovic","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"Skorvanek","sequence":"additional","affiliation":[{"name":"Department of Neurology, P.J. Safarik University , Kosice 4001 ,","place":["Slovakia"]},{"name":"Department of Neurology, University Hospital of L. Pasteur , Kosice 4001 ,","place":["Slovakia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Harrer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Necpal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Zvolen Hospital , Zvolen 96001 ,","place":["Slovakia"]},{"name":"Parkinsonism and Movement Disorders Treatment Center, Zvolen Hospital , Zvolen 96001 ,","place":["Slovakia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Kittke","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Tilch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Tsoma","sequence":"additional","affiliation":[{"name":"Department of Family Medicine and Outpatient Care, Regional Clinical Center of Neurosurgery and Neurology, Uzhhorod National University , Uzhhorod 88000 ,","place":["Ukraine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of 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,","place":["Germany"]},{"name":"Bavarian Genomes Network for Rare Disorders , Munich 81675 ,","place":["Germany"]},{"name":"Division of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children\u2019s Hospital, LMU Hospital, Ludwig-Maximilians-Universit\u00e4t , Munich 80337 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU de Nantes, CNRS, INSERM, l\u2019institut du thorax , Nantes 44000 ,","place":["France"]},{"name":"Nantes Universit\u00e9, CHU de Nantes, Service de G\u00e9n\u00e9tique m\u00e9dicale , Nantes 44000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Colangelo","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan 20126 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,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Eckenweiler","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Neuropediatrics and Muscle Disorders, University Medical Center, University of Freiburg , Freiburg 79110 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan 20126 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arie","family":"Geerlof","sequence":"additional","affiliation":[{"name":"Institute of Structural Biology, Helmholtz Center Munich , Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Bavarian Genomes Network for Rare Disorders , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Hackenberg","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University Children\u2019s Hospital Z\u00fcrich, University of Z\u00fcrich , Zurich 8008 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisa","family":"Harvanova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Associated Tissue Bank, P. J. Safarik University and L. 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University of Cologne , Cologne 50937 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Krenn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Vienna , Vienna 1090 ,","place":["Austria"]},{"name":"Comprehensive Center for Clinical Neurosciences & Mental Health, Medical University of Vienna , Vienna 1090 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Krygier","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Medical University of Gdansk , Gdansk 80210 ,","place":["Poland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Kusikova","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Neurology, Comenius University, University Hospital Bratislava and National Institute of Children\u2019s Diseases , Bratislava 83340 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,","place":["Germany"]},{"name":"School of Computation, Information and Technology, Technical University of Munich , Garching 85748 ,","place":["Germany"]},{"name":"Munich Data Science Institute, Technical University of Munich , Garching 85748 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan","family":"Milenkovic","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Vienna , Vienna 1090 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, Neuroscience Section, University of Milan , Milan 20122 ,","place":["Italy"]},{"name":"Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit , Milan 20122 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Safarik University , Kosice 4001 ,","place":["Slovakia"]},{"name":"Department of Neurology, University Hospital of L. 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