Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia
10.3760/cma.j.issn.1003-9406.2020.01.002
- VernacularTitle: 两例发作性运动诱发性运动障碍患者的PRRT2基因变异分析
- Author:
Houming YU
1
;
Songtao JIANG
1
;
Kang WANG
2
Author Information
1. Department of Neurology, the First Renmin Hospital of Lin’an (the Affiliated Lin’an Hospital of Hangzhou Medical College), Hangzhou, Zhejiang 311300, China
2. Department of Neurology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China
- Publication Type:Journal Article
- Keywords:
Paroxysmal kinesigenic dyskinesia;
PRRT2 gene;
Novel gene variant
- From:
Chinese Journal of Medical Genetics
2020;37(1):5-7
- CountryChina
- Language:Chinese
-
Abstract:
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.
