Pathogenic Variant in the 5’-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia
A non-coding variant (c.-22C > T) in the 5' UTR of the <i>GCH1</i> gene is identified in a Chinese family with DRD.The findings reveal significant clinical heterogeneity within the family, highlighting the complex genotype-phenotype relationship.
Authors
- Qiying Sun (ORCID: https://orcid.org/0000-0002-2031-8345)
- Yanting Li (ORCID: https://orcid.org/0009-0006-9722-7456)
- L. Liu
- M. Li
- Guang Yang (ORCID: https://orcid.org/0000-0002-2128-2073)
Institutions
- Central South University (CN)
- First Affiliated Hospital of University of South China (CN)
- Xiangya Hospital Central South University (CN)
- University of South China (CN)
Publication Details
- Journal
- Tremor and Other Hyperkinetic Movements
- Published
- 2025-01-01
- DOI
- https://doi.org/10.5334/tohm.974
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation