Genetic analysis of childhood-onset dystonia-28 caused by a variant (c.5076G>A) in the

Wenlong Shen, Xiaopan Chen, Yajie Yuan, Yang Wang, Xiaohua Tang

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In one paragraph

Article in Global medical genetics, 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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5 · Who and what money

Authors and funding

5 authors.

Wenlong ShenHangzhou Medical College, Hangzhou, Zhejiang, China.

Xiaopan ChenLaboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.

Yajie YuanHangzhou Medical College, Hangzhou, Zhejiang, China.

Yang WangLaboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.

Xiaohua TangHangzhou Medical College, Hangzhou, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To investigate the clinical manifestations and genetic basis of childhood-onset dystonia-28 (DYT28) associated with a variant in the Methods: A female patient, her mother, and her husband, who presented at Zhejiang Provincial People's Hospital in November 2024, were enrolled in this study. Clinical data were collected, and trio-based whole-exome sequencing (WES) was performed using peripheral blood samples obtained from all three individuals. To further evaluate the effect of the identified variant on RNA splicing, mRNA sequencing (mRNA-seq) and Sanger sequencing were subsequently performed. This study was approved by the Medical Ethics Committee of Zhejiang Provincial People's Hospital (Approval No. QT2026084). Results: The patient presented with gait abnormalities beginning after 10 years of age, accompanied by impaired mathematical ability and language communication difficulties. Her mother exhibited similar clinical manifestations, including gait disturbance, language impairment, and a history of scoliosis. WES identified a heterozygous synonymous variant in exon 23 of the Conclusion: The

Indexed as

Childhood-onset dystonia-28KMT2BMRNA-sequencingSplicing variantWhole-exome sequencing

Identifiers

PMID42440406

DOI10.1016/j.gmg.2026.100111

PMCPMC13333329

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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.