2018年3月7日 · Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS). Hundreds of KCNQ1 mutations have been identified, but the molecular mechanisms responsible for impaired function are poorly understood. We ...

2017年10月11日 · In this study, we sought to develop a protein-specific algorithm capable of accurately predicting functional consequences of KCNQ1 variants. We first curated a set of functionally validated KCNQ1 variants. We then trained a neural network-based, KCNQ1-specific genotype−channel function relationship predictor Q1VarPred.

More than 30 KCNQ1 gene mutations have been found to cause Jervell and Lange-Nielsen syndrome, a condition that causes arrhythmia and profound hearing loss from birth. About 90 percent of cases are caused by mutations in this gene. These mutations are typically present in both copies of the KCNQ1 gene in each cell. Most of these changes lead to ...

This study describes the genotype–phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundred and two families with a history of lethal cardiac events, 55 LQTS, 9 Brugada syndrome, 18 idiopathic ventricular fibrillation (IVF), and 20 acquired LQTS, were studied by single-strand conformational ...

KCNQ1 mapped to chromosome 11p15.5, encodes the larger alpha-subunit and KCNE1 the smaller beta-subunit of the IKs protein. KCNQ1 consists of 16 exons, spanning 400 kb, has relatively small amino and carboxy termini, and encodes a protein of 676 amino acids.

2007年4月30日 · In the present study involving 600 patients having a spectrum of KCNQ1 mutations derived from 3 long-QT syndrome registries, we found that cardiac event rates are increased significantly in patients with mutations located in the transmembrane region of the potassium channel and in patients with mutations having a putative dominant-negative ...

2019年1月12日 · KCNQ1 (potassium voltage-gated channel subfamily Q member 1), the major gene involved in long QT syndrome (LQTS), is part of the imprinted gene cluster that is associated with Beckwith–Wiedemann...

2021年12月16日 · Clinical and genetic data were obtained from 1,316 LQT1 patients with 166 unique KCNQ1 mutations, including 277 p.A341V-positive subjects, 139 patients with p.A341-neighboring mutations, and 900 other LQT1 subjects. S6 segment missense variant characteristics, particularly cyclic adenosine monophosphate (cAMP) …

2012年3月28日 · Patients with C-loop missense mutations in the KCNQ1 channel exhibit a high risk for life-threatening events and derive a pronounced benefit from treatment with β-blockers. Reduced channel activation after sympathetic activation can explain the increased clinical risk and response to therapy in patients with C-loop mutations.

KCNQ1 (formerly called KVLQT1) is a Shaker-like voltage-gated potassium channel gene responsible for the LQT1 sub-type of LQTS. In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and …