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Volume 10 , Issue 6 , November 2021 , Pages: 186 - 190
Novel GCH-1 Mutation in Chinese Families with Dopa-responsive Dystonia (Segawa Disease)
Yang Yang, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Lifeng Chen, Department of Neurosurgery, the First Medical Center, Chinese PLA General Hospital, Beijing, China
Lei Wu, Department of Neurosurgery, the First Medical Center, Chinese PLA General Hospital, Beijing, China
Jiarui Yao, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Na Wang, Department of Rehabilitation Medicine, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Xiaoqing Su, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Dongmei Li, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Lina Han, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Weiping Wu, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Dehui Huang, Department of Neurosurgery, the First Medical Center, Chinese PLA General Hospital, Beijing, China
Tianyu Jiang, Department of Rehabilitation Medicine, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Zhenfu Wang, Department of Neurology, the Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China
Received: Oct. 27, 2021;       Accepted: Nov. 12, 2021;       Published: Nov. 19, 2021
DOI: 10.11648/j.cmr.20211006.13        View        Downloads  
Abstract
The wide array of clinical manifestations of dopa-responsive dystonia (DRD) or Segawa disease and the prevalence of numerous DRD-associated mutations in guanosine triphosphate cyclohydrolase 1 (GCH1) gene makeDRD diagnosis challenging. Methods: In this study, we assessed the clinical and genetic characteristics of two Chinese families with 3 DRD probands. Clinical assessment of DRD-related symptoms was conducted for all participants. All 6 exons of GCH1 were assessed by genetic analyses for individuals with heteroduplex DNA as compared that of controls. Results: The median DRD-onset age was 24 years and the female to male ratio of DRD patients was 8:1. Six out of eight (75%) patients responded to levodopa therapy. The data indicated that the GCH1 sequence had a novel point mutation resulting in T to C transition at position 80 in exon 1 of the cDNA sequence (c.80T>C), which resulting in an amino acid change (L27P) of GCH1 in the probands and their mother in the first DRD family. Conclusion: A novel GCH1 mutation (c.80T>C) was identified in the DRD patients in the first family. Our findings indicate that both clinical symptom assessment and genetic testing should be employed for improving DRD diagnosis.
Keywords
Dopa-responsive Dystonia, Guanosine Triphosphate Cyclohydrolase, GCH1, Chinese
To cite this article
Yang Yang, Lifeng Chen, Lei Wu, Jiarui Yao, Na Wang, Xiaoqing Su, Dongmei Li, Lina Han, Weiping Wu, Dehui Huang, Tianyu Jiang, Zhenfu Wang, Novel GCH-1 Mutation in Chinese Families with Dopa-responsive Dystonia (Segawa Disease), Clinical Medicine Research. Vol. 10, No. 6, 2021, pp. 186-190. doi: 10.11648/j.cmr.20211006.13
Copyright
Copyright © 2021 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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