ArticleAnnals of clinical and translational neurology2025
Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series.Frontiers in pediatrics · 2026Article
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Authors and funding
6 authors.
Funding
Abstract
objectiveParoxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions.
methodsPatients with clinically suspected PKD and no detectable pathogenic variants in the PRRT2 gene were included. Targeted next-generation sequencing technology was used to screen the full-length sequence of PRRT2. In silico analyses were performed on splice region variants identified in our cohort and compiled from the Human Gene Mutation Database (HGMD). Subsequently, a minigene system carrying these variants was constructed and introduced into HEK293T cells for functional assays to assess the pathogenicity.
resultsFourteen PRRT2 variants were analyzed, including four identified in patients with clinically suspected PKD from our center and 10 retrieved from HGMD. These variants comprised 10 intronic variants, two synonymous variants, one deletion, and one missense variant. In silico predictions suggested that all variants, except for one deep intronic variant, had the potential to affect normal splicing. Functional assays showed that 11 PRRT2 variants, including missense and intronic variants, caused aberrant splicing events, such as exon skipping and intron retention. The two synonymous variants and one deep intronic variant exhibited no splicing abnormalities. Based on these results, five patients with PRRT2 variants previously classified as variants of uncertain significance can now be genetically diagnosed with PKD or other PRRT2-related disorders.
interpretationCombining in silico analyses with functional assays is essential for determining the pathogenicity of splice variants. It can help confirm the diagnosis of patients with clinically suspected PKD and other PRRT2-related disorders.
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