Objective: We aimed to systematically evaluate the genetic associations of MED27with dystonia in a dystonia cohort.
Background: Recently,Meng et alreported a novel neurodevelopmental syndrome manifested homogeneously as developmental delay, dystonia and cerebellar hypoplasia caused by biallelic disease-causing variantsinMED27gene. However, no further replication study has been conducted in dystonia cohorts.
Method: We analyzed rare variants of MED27in 397 Chinese dystonia 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: The variant reported in the original study was not identified in our dataset. Four rare variants (minor allele frequency < 0.01), namely p.P174A, p.P123A, p.L120F and p.F56C, were identified in four individuals. At allele level, p. L120F was associated with higher risk of dystonia using summary data from ChinaMAP as control. However, gene-based burden analysis did not detect enrichment of rare variants of MED27in dystonia.
Conclusion: After comprehensively analyzing the genetic involvement of MED27 in dystonia, we found that variants of MED27were rare in Chinese dystonia patients, which paved way for future research.
To cite this abstract in AMA style:J. Lin, C. Li, H. Shang. Mutation screening and burden analysis of MED27 in dystonia in a Chinese population [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/mutation-screening-and-burden-analysis-of-med27-in-dystonia-in-a-chinese-population/. Accessed September 25, 2023.
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MDS Abstracts - https://www.mdsabstracts.org/abstract/mutation-screening-and-burden-analysis-of-med27-in-dystonia-in-a-chinese-population/