KCNQ1及其辅助亚基minK形成的KCNQ1/minK复合体能够产生延迟外向整流钾电流IKS,该电流帮助终结心肌细胞中的动作电位,KCNQ1基因若发生突变,就会引起该通道的功能紊乱,从而引起心脏长QT综合征,即LQTS,最终导致严重的心律不齐,室颤甚至心脏休克。目前发现许多疾病与KCNQ基因突变或其编码的钾离子通道功能失调有关,鉴于这些...
Snyders.Functional effects of a KCNQ1 mutation associated with the long QT syndrome.Cardiovascular Research. 2006Inge R. Boulet,Adam L. Raes,Natacha Ottschytsch and Dirk J. Snyders.Functional effects of a KCNQ1 mutation associated with the long QT syndrome. Cardiovascular Research . 2006...
目的长QT综合征(LQTS)是一种遗传性心律失常,表现为心电图上QT间期延长,可引起晕厥和猝死,分为不伴耳聋的RWS综合征和伴耳聋的Jervell Lange-Nielsen(JLNS).已知至少有13个基因上的突变可导致RWS,而编码延迟整流钾通道IKS的KCNQ1和KCNE1基因上的纯合或复合杂合突变引起JLNS.关于中国JLNS病人的致病原因,目前只见到...
The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genet...
In silico investigation of a KCNQ1 mutation associated with short QT syndrome In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. J Electrocardiol 2014; 47: 158-165 [PMID: 24411289 DOI: 10.1016/j.jelectrocard.2013.12.004]Adeniran I, Whittaker DG, El Harchi...
et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15, 186–189 (1997). Article CAS PubMed Google Scholar Moss, A.J. et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and...
modify the endocrine phenotype of this syndrome. We also found a spectrum of corrected QT intervals in the mutation carriers, which indicates incomplete penetrance and variable expressivity of the mutations in the heart, similarly as described for long QT syndrome due to loss-of-functionKCNQ1...
Mutations in these transmembrane proteins have been linked with several heart-related issues, including long QT syndromes (LQTS), congenital atrial fibrillation, and short QT syndrome. Off-target interactions of several drugs with that of KCNQ1/KCNE1 ion channel complex have been known to cause ...
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness asso... N Neyroud,F Tesson,I ...
founder mutationIranJervell and Lange‐Nielsen syndromeKCNQ1long‐QT syndromeJervell㎜ange Nielsen syndrome (JLNS) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by ...