Objective: To explore the frequency and spectrum of HPCA mutation in Chinese subjects with dystonia.
Background: Dystonia is known as a group of clinically and etiologically heterogeneous disorders. Genetically defective components play an important role in the genesis of dystonia. Recently, Charlesworth et al. identified HPCA gene was one of the underlying genetic causes of autosomal-recessively inherited dystonia in two unrelated families.
Method: Mutation screening of HPCA were performed in a cohort of Chinese patients with dystonia.
Results: A total of 185 unrelated Chinese Han patients diagnosed with dystonia were recruited. Among these patients, 132 had focal dystonia, 39 had segmental dystonia, 2 had multifocal dystonia and 12 had generalized dystonia. The age at onset was known in 149 patients (80.5%) with average of 29.6 ± 15.2 years. In this cohort, no pathogenic mutations in HPCA were detected. Four heterozygous synonymous missense mutations in HPCA were identified, including c.G264A, c.G297A, c.G411A and c.G566C.
Conclusion: Mutations in HPCA gene may not be a common cause of dystonia in the Chinese population.
To cite this abstract in AMA style:
J. Ma, Y.M Liu. No pathogenic mutations in HPCA in Chinese dystonia patients [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/no-pathogenic-mutations-in-hpca-in-chinese-dystonia-patients/. Accessed December 10, 2023.« Back to MDS Virtual Congress 2020
MDS Abstracts - https://www.mdsabstracts.org/abstract/no-pathogenic-mutations-in-hpca-in-chinese-dystonia-patients/