Evidence map›Paper›PMID 42860619›Full record

ArticleCNS neuroscience & therapeutics2026

Whole-Exome Sequencing Reveals the Genetic Landscape and Genotype-Phenotype Spectrum of Dystonia in a Chinese Cohort.

Yiqing Gong, Huirong Peng, Zhao Chen, Jiawei He, Linliu Peng, Qian Jiang, Chunrong Wang, Linlin Wan, Lang He, Yuting Shi and 2 more

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Article in CNS neuroscience & therapeutics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Yiqing GongDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID https://orcid.org/0000-0002-1636-1789
Huirong PengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhao ChenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jiawei HeDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Linliu PengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qian JiangBioinformatics Center and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Chunrong WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Linlin WanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lang HeDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yuting ShiDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Rong QiuSchool of Computer Science and Engineering, Central South University, Changsha, Hunan, China.
Hong JiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID https://orcid.org/0000-0003-2812-4120

Funding

Central South University Clinical Research Zhang Xiao-qian Program ZXQ2026A08Central South University Research Programme of Advanced Interdisciplinary Study 2023QYJC010China Postdoctoral Science Foundation 2024M753690Major Scientific Research Project for High-level Health Talent in Hunan Province R2023047MIIT Project for Open Competition and Leadership in AI Medical Device Innovation 2025-AISJK-01009National Key Research and Development Program of China 2021YFA0805200National Natural Science Foundation of China 82301628National Natural Science Foundation of China 82371272National Natural Science Foundation of China 82401496National Natural Science Foundation of China 82571433National Natural Science Foundation of China 82571632National Natural Science Foundation of China U25A2058Natural Science Foundation of Hunan Province 2024JJ3050Natural Science Foundation of Hunan Province 2024JJ6638Natural Science Foundation of Hunan Province 2025JJ20078Natural Science Foundation of Hunan Province 2025JJ60489Postdoctoral Fellowship Program of CPSF GZB20230870The Scientific and Technology Innovation Program of Hunan Province 2026RC9017the Scientific Research Programnof FuRong Laboratory 2025PT5001the Scientific Research Programnof FuRong Laboratory 2025PT5014
6 · The paper itself

Abstract

aimsTo systematically characterize the genetic landscape of dystonia in a Mainland Chinese cohort, where over 60% of patients currently lack a molecular diagnosis due to limited large-scale genomic studies.

methodsWhole-exome sequencing (WES) was performed in a cohort of 147 clinically diagnosed dystonia patients, with variants prioritized by population frequency, CADD/REVEL scores, and ACMG criteria; repeat expansion screening was also conducted to evaluate potential repeat-expansion phenocopies.

resultsThe overall diagnostic yield was 33.3%, with significantly higher rates in generalized and childhood-onset dystonia patients. We expanded the mutational and phenotypic spectra of established dystonia genes, including ATP1A3, KMT2B, GCH1, and TOR1A. Repeat expansion screening identified ATXN8OS and TBP expansions of uncertain clinical significance. Notably, two heterozygous FIG4 variants (c.1038_1039del and c.2181-2A>G) were identified as candidate findings requiring further validation. Exploratory HEK-293 T cell analyses showed that the frameshift variant produced a truncated protein and was associated with lysosome-related cellular alterations and reduced cell viability.

conclusionThis study delineates the genetic architecture and genotype-phenotype spectrum of dystonia in a Chinese cohort, providing population-specific evidence for the molecular classification and genetic evaluation of dystonia.

Indexed as

DystoniaExome SequencingAdolescentAdultAsian PeopleChildChild, PreschoolChinaCohort StudiesEast Asian PeopleFemaleGenetic Association StudiesHEK293 CellsHumansMaleMiddle AgedMolecular ChaperonesTOR1A protein, humanChinese cohortdystoniagenetic landscapegenotype–phenotype spectrummolecular diagnosiswhole‐exome sequencing

Identifiers

PMID42860619
PMCPMC13655300

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.