Clinical and genotype features of 2 infants with epilepsy caused by RYR2 gene mutations
10.3760/cma.j.cn115354-20220902-00602
- VernacularTitle:2例 RYR2基因突变致癫痫患儿的临床及基因型特征分析
- Author:
Zheng CHEN
1
;
Qiang LUO
;
Zhenbiao LI
;
Peichao TIAN
;
Huaili WANG
;
Zhihong ZHUO
Author Information
1. 郑州大学第一附属医院儿科，郑州 450052
- Keywords:
RYR2 gene;
Epilepsy;
Susceptibility gene
- From:
Chinese Journal of Neuromedicine
2022;21(11):1149-1152
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical and genotype features of infants with epilepsy caused by RYR2 gene mutations, and explore the correlation between RYR2 gene mutations and epilepsy. Methods:The clinical characteristics and genetic test results of 2 infants with epilepsy caused by RYR2 gene mutations, admitted to Department of Pediatrics, First Affiliated Hospital of Zhengzhou University in December 2020 or May 2022, were retrospectively analyzed. The related literature was reviewed. Results:These 2 infants had onset at the infancy (4 and 9 months after birth), characterized by repeated unprovoked seizures; 1 patient had abnormal dynamic electrocardiogram results without malignant ventricular arrhythmia; 1 patient showed abnormal discharge in interictal electroencephalogram, which was effectively controlled after treatment with levetiracetam oral solution. Whole exon sequencing revealed heterozygous missense mutation of the RYR2 gene c.14767A>G(p.Met4923Val) in 1 child, heterozygous missense mutation of the RYR2 gene c.14014A>G(p.Met4672Val) in 1 child, and no other known epilepsy pathogenic gene mutation was found in 2 children. American Society for Medical Genetics and Genomics guidelines evaluated 2 mutations as pathogenic mutations (PS2+PM1+PM2+PP2+PP3). Conclusion:RYR2 gene is potentially a novel epilepsy gene.
