Related Experiment Video
Updated: Dec 31, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia]
Houming Yu1, Songtao Jiang, Kang Wang
1Department of Neurology, the First Renmin Hospital of Lin'an (the Affiliated Lin'an Hospital of Hangzhou Medical College), Hangzhou, Zhejiang 311300, China. fcwangk1@zju.edu.cn.
Insights
Two children with paroxysmal kinesigenic dyskinesia were found to have novel pathogenic variants in the PRRT2 gene. These PRRT2 gene variants were inherited from their mothers and likely cause the disorder.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by brief, involuntary movements.
- The proline-rich transmembrane protein 2 (PRRT2) gene is frequently associated with familial and sporadic cases of PKD.
- Identifying novel variants in PRRT2 is crucial for understanding the genetic basis of PKD.
Objective:
To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.
Methods:
Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.
Results:
The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.
Conclusion:
The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.
