PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children

Authors

  • Pantaree Laosuebsakulthai Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.
  • Surachai Likasitwattanakul Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.
  • Theerapong Pho-iam Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.
  • Wanna Thongnoppakhun Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.
  • Mongkol Chanvanichtrakool Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok Noi, Bangkok 10700, Thailand.

DOI:

https://doi.org/10.31584/jhsmr.2021853

Keywords:

paroxysmal kinesigenic dyskinesia, PKD, PRRT2 gene, Thai children

Abstract

Objective: To examine the frequency of the proline-rich transmembrane protein-2 (PRRT2) gene mutation in Thai patients with paroxysmal kinesigenic dyskinesia (PKD).

Material and Methods: A retrospective study of children aged 0-18 years with a diagnosis of PKD at Siriraj Hospital. The genetic analyses of the PRRT2 gene were done by bidirectional Sanger sequencing.

Results: Twelve patients with PKD were included. The known PRRT2 mutation, c.649dupC (p.Arg217Profs*8), was identified in three of the patients (25.0%), one of the nine sporadic cases (11.1%) and two of the three familial cases (66.6%), all from different families. PKD had a complete response to carbamazepine treatment regardless of PRRT2 mutation status.

Conclusion: Our study provided the new details of the clinical phenotypes and PRRT2 gene analysis findings for Thai PKD. PRRT2 mutations were identified in our Thai PKD patients with increased detection rates in the familial PKD cases. The c.649dupC (p.Arg217Profs*8) was also found to be a hot-spot mutation in our Thai PKD patients. Furthermore, this study demonstrates the importance of PRRT2 gene analysis in order to properly diagnose and treat these patients.

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Published

2021-11-24

How to Cite

1.
Laosuebsakulthai P, Likasitwattanakul S, Pho-iam T, Thongnoppakhun W, Chanvanichtrakool M. PRRT2 Gene Analysis of Paroxysmal Kinesigenic Dyskinesia (PKD) in Thai Children. J Health Sci Med Res [Internet]. 2021 Nov. 24 [cited 2023 Jan. 28];40(4):419-24. Available from: https://he01.tci-thaijo.org/index.php/jhsmr/article/view/257752

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Original Article