儿科药学杂志2023，Vol.29Issue(12)：38-43,6.DOI:10.13407/j.cnki.jpp.1672-108X.2023.012.009
1例KCNH2基因突变致长QT综合征病例分析
A Case of Long QT Syndrome Induced by KCNH2 Mutation
摘要
Abstract
Objective:To explore the pathogenic genes of long QT syndrome and the correlation between gene mutation and clinical phenotype.Methods:Clinical data of a child with suspected long QT syndrome were retrospectively analyzed,and whole exome sequencing(WES)was performed to screen the mutations that could lead to long QT syndrome.Pathogenicity scoring,genetic inheritance patterns and Sanger sequencing were used to validate the identified mutation.Results:Genetic testing revealed the heterozygous mutation in KCNH2 gene c.3100_3109delGACACCGACC.Various prediction software indicated that the mutation was deleterious.Alphafold analysis suggested that the mutation could lead to protein truncation.Conclusion:The heterozygous mutation c.3100_3109delGACACGGAGC in KCNH2 gene is the pathogenic mutation in the child,which may affect the stability of the KCNH2 protein.关键词
长QT综合征/KCNH2突变/全外显子测序/心源性猝死/生物信息学Key words
long QT syndrome/KCNH2 mutation/whole exon sequencing/sudden cardiac death/bioinformatics分类
医药卫生引用本文复制引用
林舒嘉,陈顺,林秋萍,赵小佩,徐萌,贾佳,肖婷婷,侯翠兰,谢利剑..1例KCNH2基因突变致长QT综合征病例分析[J].儿科药学杂志,2023,29(12):38-43,6.基金项目
国家自然科学基金项目,编号82170518. （）
