病态窦房结综合征家系致病基因分析1例并文献复习  

Genetic Analysis of Sick Sinus Syndrome in a Family and Literature Review

作　　者：刘威[1] 侯翠兰 谢利剑 李筠[1] 肖婷婷 Liu Wei;Hou Cuilan;Xie Lijian;Li Yun;Xiao Tingting(Children’s Hospital of Shanghai,Children’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200062,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院,上海200062

出　　处：《儿科药学杂志》2022年第9期37-41,共5页Journal of Pediatric Pharmacy

基　　金：上海市科委项目,编号19411963600。

摘　　要：目的:通过全外显子测序(WES)探讨病态窦房结综合征(SSS)家系的致病基因,并探讨其基因突变型与临床表型的相关性。方法:收集在上海市儿童医院就诊的1例SSS患儿及其家系成员的临床资料,采集患儿及家系成员的外周血,抽提血液DNA,通过WES寻找致病基因,利用Sanger测序在家系中验证可能的致病基因突变,使用致病性预测软件预测基因型与表型关系。结果:通过测序结果比对分析,多个生物数据库筛选、过滤,发现SCN5A基因c.999-1G>A位点发生杂合突变,是SSS的可能致病基因,此位点突变在汉族儿童中尚属首次报道。结论:SCN5A基因的c.999-1G>A位点突变是导致散发SSS的致病位点;通过对SSS相关致病基因的研究,对于临床医师精准判断此类疾病以及未来尽早进行心脏生物起搏治疗具有重要的临床意义。Objective:To probe into the pathogenic genes of sick sinus syndrome(SSS)through whole-exon sequencing(WES),and to investigate the correlation between gene mutation type and clinical phenotype.Methods:Clinical data of a patient with SSS and the family members in Shanghai Children’s Hospital were collected.Peripheral blood from the patient and family members was collected,and blood DNA was extracted.WES was used to search for pathogenic genes,Sanger sequencing was used to verify possible pathogenic gene mutations,and pathogenicity prediction software was used to predict the correlation between genotype and phenotype.Results:Compared with unaffected individuals and multiple biological databases,a heterozygous mutation of SCN5A gene c.999-1G>A was found,and it was a possible causative gene in SSS.This mutation was reported for the first time in Han children.Conclusion:The mutation of SCN5A gene c.999-1G>A is the pathogenic site of sporadic SSS.Through the study of SSS related pathogenic genes,it is of great clinical significance for clinicians to accurately judge such patients and carry out biological cardiac pacing therapy as early as possible in the future.

关 键 词：病态窦房结综合征 心脏猝死 全外显子测序 基因检测 点突变 

分 类 号：R725.4[医药卫生—儿科]