Concomitant-Brugada and short QT ECG linked to SCN5A mutation-中国期刊网

摘要 ObjectivesPhenotypicoverlapofBrugadasyndromewithtype3longQTsyndromeisobservedinsomecarriersofmutationsintheNachannelSCN5A.Concomitant-Brugadasyndromeand3typelongQTsyndromeassociatedwithsodiumchannelmutationwasreportedbefore,however,nodatashowedconcomitant-BrugadatypeandshortQTintervalelectrocardiogram(ECG)andrevealedtheassociated-genemutation.MethodsThedirectDNAsequencewasconducedtofindthemutation.Themutationwasreproducedinvitrousingsite-directedmutagenesisandcharacterizedusingthepatchclamptechniqueinthewhole-cellconfiguration.ResultsThepatientwiththefamilyhistoryofsuddendeathshowedBrugadaandshortQTintervalECG.SequenceofSCN5Aidentifiedamissensemutation,R689H,previouslyassociatedwithalongQTsyndrome.BiophysicalstudyshowedthattheR689Hfailedtogenerateanycurrentwhenheterolo-gouslyexpressedinHEKcells.ConclusionsOurfindingsindicateforthefirsttimethatcoexisted-BrugadatypeandshortQTintervalECGlinkedtothelossoffunctioninSCN5Amutation.

1潘佳君;石川;刘艳;陈秋静;陆林;金玮. 发热诱导的Brugada波与SCN5A基因变异的研究.内科学,2010-02.
2史瑞明;强华;张艳敏;马爱群;高洁. 先天性QT间期延长综合征相关基因SCN5A定点突变及蛋白表达研究.儿科,2013-03.
3戴艮银,秦玉明,杨世伟. SCN5A基因突变致家族性心肌病一例.医药卫生,2021-12.
4Hao Fan;Jia-You Chu. A Brief Review of Short Tandem Repeat Mutation.分子生物学,2007-01.
5张川;韦凡平;袁高辉. SCN5A基因A1673G多态性与孤立阵发房颤的关联研究.心血管疾病,2012-03.
6杨佳雪,马宁,陈桂云,李新,刘念,汤日波,贾长琪,冯莉. SCN5A基因突变致多源浦肯野纤维相关室性早搏综合征1例.医药卫生,2022-12.
7李菲;许瑞;周贤惠;汤宝鹏;王斌. 新疆地区哈、维、汉族人群先心病SCN5A基因外显子突变和H558R的多态性研究.内科学,2013-02.
8Bang-qing Huang;Jia-ling Zeng;Yong-yi Yuan;Pu Dai. A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.耳鼻咽喉科,2015-02.
9Yu Baoli,Zhu Geng,Li Shangang,Chen Xuejin,Fang Qian,Zhang Yan,Liu Yixun,Li Shengtian,Wu Ji. CRISPR/Cas9-mediated mutation of asparagine-linked glycosylation 13 transcript variant 1 causes epilepsy in mice.医药卫生,2020-08.
10. Corrigendum: CRISPR/Cas9-mediated mutation of asparagine-linked glycosylation 13 transcript variant 1 causes epilepsy in mice.医药卫生,2021-08.

Concomitant-Brugada and short QT ECG linked to SCN5A mutation

来源期刊

相关推荐

同分类资源更多

相关关键词

Concomitant-Brugada and short QT ECG linked to SCN5A mutation

来源期刊

相关推荐

同分类资源 更多

相关关键词

同分类资源更多