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Mutation screening of PCDHGB1 variants in a large dystonia cohort

J. Lin, C. Li, Q. Jiang, R. Ou, Q. Wei, Y. Hou, L. Zhang, K. Liu, Y. Xiao, T. Yang, S. Wang, D. Pang, Y. Yu, Y. Cui, W. Song, B. Zhao, J. Yang, X. Chen, R. Huang, Y. Wu, H. Shang (Chengdu, China)

Meeting: 2023 International Congress

Abstract Number: 805

Keywords: Dystonia: Genetics

Category: Dystonia: Epidemiology, Genetics, Phenomenology

Objective: We aimed to systematically evaluate the genetic associations of PCDHGB1with dystonia in a large Chinese dystonia cohort.

Background: Recently, PCDHGB1has been identified to be a novel causative gene of dystonia predominantlyaffecting the cervical muscles. However, no large cohort study has been conducted to confirm the association.

Method: We analyzed rare variants ofPCDHGB1in 878dystonia patients with whole exome sequencing. The over-representation of rare variants in patients was examined with Fisher’s exact test at allele and gene levels.

Results: A total of28 rare variantsin PCDHGB1 were identified in 59individuals, including three frameshift substitution variantsand 25 missense variants.Among the28 rare variants, 19 variants were ultra-rare (MAF < 0.001) in the East Asian population from gnomAD and ChinaMAP, and 16 variants were predicted to be damaging by at least 5 in-silico prediction tools.Among the 59 variants carriers, 45 patients presented with isolated dystonia, 10 with combined dystonia, and 4 with complex dystonia. At variant level, p.P773S was nominally associated with a higher risk of dystonia. Gene-based burden analysis detected enrichment of ultra-rare variants and ultra-rare damagingvariants of PCDHGB1in dystonia.

Conclusion: Our study supplemented the evidence on the role of PCDHGB1in dystonia in Chinese population, andexpanded the genotypic and phenotypic spectrum of PCDHGB1.

To cite this abstract in AMA style:

J. Lin, C. Li, Q. Jiang, R. Ou, Q. Wei, Y. Hou, L. Zhang, K. Liu, Y. Xiao, T. Yang, S. Wang, D. Pang, Y. Yu, Y. Cui, W. Song, B. Zhao, J. Yang, X. Chen, R. Huang, Y. Wu, H. Shang. Mutation screening of PCDHGB1 variants in a large dystonia cohort [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/mutation-screening-of-pcdhgb1-variants-in-a-large-dystonia-cohort/. Accessed May 24, 2025.
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