Open Access

Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports

  • Authors:
    • Jiajia Fang
    • Shige Wang
    • Guohua Zhao
    • Li Cao
  • View Affiliations

  • Published online on: March 17, 2020     https://doi.org/10.3892/br.2020.1293
  • Copyright: © Fang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by recurrent brief episodes of dystonia, chorea, athetosis or any combination of these, without alterations of consciousness. The proline‑rich transmembrane protein 2 (PRRT2) gene has been widely investigated as a causative gene of PKD. To date, a cluster of pathogenic variants associated with PKD have been identified in the PRRT2 gene. In the present case report, two Chinese patients with sporadic PKD are discussed. Genetic analysis revealed a de novo heterozygous missense mutation, c.955G>T (p.Val319Leu) in exon 3 of the PRRT2 gene. Compared with the commonly reported clinical manifestation of PRRT2‑associated PKD, the patients in this report showed several primary distinctive features. The mutations identified in the present analysis expand upon the mutation spectrum of the PRRT2 gene, and this newly found variant further reinforces the importance of the PRR2 gene in PKD.

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APA
Fang, J., Wang, S., Zhao, G., & Cao, L. (1899). Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. Biomedical Reports, 0, 0-0. https://doi.org/10.3892/br.2020.1293
MLA
Fang, J., Wang, S., Zhao, G., Cao, L."Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports". Biomedical Reports 0.0 (1899): 0-0.
Chicago
Fang, J., Wang, S., Zhao, G., Cao, L."Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports". Biomedical Reports 0, no. 0 (1899): 0-0. https://doi.org/10.3892/br.2020.1293