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Updated: Apr 19, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient
S Prabhakara1, Kolandaswamy Anbazhagan2
1Department of Research and Development, Genomics and Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar, India ; Central Research Lab, Raja Rajeswari Medical College and Hospital, Bangalore, Karnataka, India.
Abstract:
Paroxysmal kinesigenic dyskinesia (PKD) is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. Mutations in proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in the cause of this disorder. This study presents a case of PKD on the basis of clinical findings supported and evidences obtained through a mutational analysis. Sequencing of all the exons of PRRT2 gene revealed a frameshift mutation (p.R217Pfs*8) in exon 2 and a novel transition mutation (c.244C > T) in 5'-untranslated region (UTR). Though mutations in PRRT2 gene are well-established in PKD, this study for the first time presents a novel transition mutation in the exon 2 region.
Insights
Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder linked to PRRT2 gene mutations. This study identified a novel mutation in the PRRT2 gene
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Paroxysmal kinesigenic dyskinesia (PKD) is characterized by episodic involuntary movements triggered by sudden actions.
- Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene are a known cause of PKD.
- Understanding the genetic basis of PKD is crucial for diagnosis and potential therapeutic strategies.
Observation:
- This study details a clinical case of paroxysmal kinesigenic dyskinesia.
- Comprehensive mutational analysis of the PRRT2 gene was performed.
- Genetic sequencing was utilized to identify specific alterations within the PRRT2 gene.
Findings:
- A frameshift mutation (p.R217Pfs*8) was identified in exon 2 of the PRRT2 gene.
- A novel transition mutation (c.244C > T) was discovered in the 5'-untranslated region (UTR) of the PRRT2 gene.
- This research reports a novel transition mutation within the PRRT2 gene associated with PKD.
Implications:
- The findings expand the spectrum of known PRRT2 mutations associated with paroxysmal kinesigenic dyskinesia.
- Identification of novel mutations aids in understanding the genotype-phenotype correlation in PKD.
- This research contributes to the genetic knowledge base for diagnosing and potentially treating PKD.
