ArticleJournal of cardiovascular electrophysiology2010
A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.
Article in Journal of cardiovascular electrophysiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38 citing papers in PubMed, 65 citations in OpenAlex.
- Aberrant TMPRSS6-Protease Regulation of Disease Mutant HCN4-KCNE1 Channel Complex Depends on the KCNE1-G38S Polymorphism.Archiv der Pharmazie · 2026Article
- Evaluation of the Potential Targets of Shenxian-Shengmai Oral Liquid in Treating Sick Sinus Syndrome Based on Network Pharmacology and Molecular Docking.Food science & nutrition · 2024Article
- Pacemaker Channels and the Chronotropic Response in Health and Disease.Circulation research · 2024Review
- Contributions of Israel to the field of clinical cardiac electrophysiology and implantable devices.Heart rhythm O2 · 2024Article
- Sudden cardiac death associated with a pathogenic genetic variant inThe British journal of cardiology · 2024Article
- Article
- An evolutionarily conserved pacemaker role for HCN ion channels in smooth muscle.The Journal of physiology · 2023Article
- Rhythm abnormalities among hospitalised children in Lagos: a case series.Sudanese journal of paediatrics · 2023Article
- The zebrafish cohesin protein Sgo1 is required for cardiac function and eye development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Article
- Nanodiamond-based microRNA delivery system promotes pluripotent stem cells toward myocardiogenic reprogramming.Journal of the Chinese Medical Association : JCMA · 2021Article
- Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.PloS one · 2021Article
- Left Ventricular Noncompaction: New Insights into a Poorly Understood Disease.Current cardiology reviews · 2021Review
- Enhancing induced pluripotent stem cell toward differentiation into functional cardiomyocytes.Journal of the Chinese Medical Association : JCMA · 2020Article
- Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.Scientific reports · 2019Article
- Characterization of drug binding within the HCN1 channel pore.Scientific reports · 2019Article
- TBX18 overexpression enhances pacemaker function in a rat subsidiary atrial pacemaker model of sick sinus syndrome.The Journal of physiology · 2018Article
- A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.Heart and vessels · 2018Article
- Computational analysis of the human sinus node action potential: model development and effects of mutations.The Journal of physiology · 2017Article
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11 authors at 3 institutions in 2 countries.
Funding
Abstract
objectivesto conduct a clinical, genetic, and functional analysis of 3 unrelated families with familial sinus bradycardia (FSB).
backgroundmutations in the hyperpolarization-activated nucleotide-gated channel (HCN4) are known to be associated with FSB. METHODS AND
resultsthree males of Moroccan Jewish descent were hospitalized: 1 survived an out-of-hospital cardiac arrest and 2 presented with weakness and presyncopal events. All 3 had significant sinus bradycardia, also found in other first-degree relatives, with a segregation suggesting autosomal-dominant inheritance. All had normal response to exercise and normal heart structure. Sequencing of the HCN4 gene in all patients revealed a C to T transition at nucleotide position 1,454, which resulted in an alanine to valine change (A485V) in the ion channel pore found in most of their bradycardiac relatives, but not in 150 controls. Functional expression of the mutated ion channel in Xenopus oocytes and in human embryonic kidney 293 cells revealed profoundly reduced function and synthesis of the mutant channel compared to wild-type.
conclusionswe describe a new mutation in the HCN4 gene causing symptomatic FSB in 3 unrelated individuals of similar ethnic background that may indicate unexplained FSB in this ethnic group. This profound functional defect is consistent with the symptomatic phenotype.
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