摘要
目的:探讨长QT综合征的致病基因及其基因突变与临床表型的相关性。方法:回顾分析1例可疑长QT综合征患儿的临床资料,并利用全外显子测序(WES)筛查可能导致长QT综合征的突变。利用致病性评分、遗传模式及Sanger测序验证突变。结果:基因检测结果提示患儿存在KCNH2基因c.3100_3109delGACACGGAGC杂合突变,各类预测软件提示该突变是有害突变。Alphafold分析提示该突变会导致蛋白质截短。结论:KCNH2基因c.3100_3109delGACACGGAGC杂合突变是本例患儿的致病突变,并且该突变可能影响了KCNH2蛋白的稳定性。
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_3109delGACACGGAGC.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.
作者
林舒嘉
陈顺
林秋萍
赵小佩
徐萌
贾佳
肖婷婷
侯翠兰
谢利剑
Lin Shujia;Chen Shun;Lin Qiuping;Zhao Xiaopei;Xu Meng;Jia Jia;Xiao Tingting;Hou Cuilan;Xie Lijian(Children’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200062,China;Shanghai Center for Bioinformation Technology,Shanghai 201203,China;Jinshan Hospital,Fudan University,Shanghai 201508,China)
出处
《儿科药学杂志》
CAS
2023年第12期38-43,共6页
Journal of Pediatric Pharmacy
基金
国家自然科学基金项目,编号82170518。
