Open Access

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families

  • Authors:
    • Jialinzi He
    • Haiyun Tang
    • Chaorong Liu
    • Langzi Tan
    • Wenbiao Xiao
    • Bo Xiao
    • Hongyu Long
    • Lili Long
  • View Affiliations

  • Published online on: March 18, 2021     https://doi.org/10.3892/etm.2021.9935
  • Article Number: 504
  • Copyright: © He et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collected. Genomic DNA was isolated from the peripheral blood samples of all available members. The genetic diagnosis was made by whole‑exome sequencing on the three probands and the candidate variants were verified by PCR‑Sanger sequencing. The pathogenicity of variants was predicted by bioinformatics analyses and classified according to the American College of Medical Genetics criteria. A total of three causative heterozygous variants were identified in the proline‑rich transmembrane protein 2 (PRRT2) gene by DNA sequencing: A novel c.324_334del(p.Val109Argfs*21) deletion variant in Family A, as well as the previously known c.510_513del(p.Ser172Argfs*3) deletion variant in Family B and c.649dupC(p.Arg217Profs*8) duplication variant in Family C. The three variants of PRRT2 co‑segregated with the phenotype and genotype in the family members. The present results deepen the current understanding of PKD/BFIE and extend the genotypic‑phenotypic spectrum of PKD/BFIE.
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May-2021
Volume 21 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
He J, Tang H, Liu C, Tan L, Xiao W, Xiao B, Long H and Long L: Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families. Exp Ther Med 21: 504, 2021.
APA
He, J., Tang, H., Liu, C., Tan, L., Xiao, W., Xiao, B. ... Long, L. (2021). Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families. Experimental and Therapeutic Medicine, 21, 504. https://doi.org/10.3892/etm.2021.9935
MLA
He, J., Tang, H., Liu, C., Tan, L., Xiao, W., Xiao, B., Long, H., Long, L."Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families". Experimental and Therapeutic Medicine 21.5 (2021): 504.
Chicago
He, J., Tang, H., Liu, C., Tan, L., Xiao, W., Xiao, B., Long, H., Long, L."Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families". Experimental and Therapeutic Medicine 21, no. 5 (2021): 504. https://doi.org/10.3892/etm.2021.9935