Article

Exome Sequencing Identifies <i>POPDC2</i> as a Candidate Gene for Familial Congenital Junctional Ectopic Tachycardia

2026-05-17

Abstract excerpt

<h4>Background</h4> Congenital junctional ectopic tachycardia (cJET) is a rare, potentially life-threatening arrhythmia suspicious for a genetic basis, yet its molecular underpinnings remain incompletely defined. The POPDC2 gene, involved in cardiac pacemaking and membrane trafficking of interacting ion channels, has not previously been conclusively linked to human tachyarrhythmias. This study investigates a nov...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6b650f7f-e50c-5696-a7d3-b382f620bc36
DOI: 10.64898/2026.05.12.26353039

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exome Sequencing Identifies <i>POPDC2</i> as a Candidate Gene for Familial Congenital Junctional Ectopic TachycardiaDOI 10.64898/2026.05.12.26353039Read

Biallelic variants in<i>POPDC2</i>cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathySemantic proximity Read

POPDC2 a novel susceptibility gene for conduction disorders.Semantic proximity Read

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.Semantic proximity Read

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.Semantic proximity Read

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.Semantic proximity Read

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.Semantic proximity Read

Recessive <i>POPDC1</i> Truncation Causes Lethal Short-QT Pattern Arrhythmogenic Cardiomyopathy with Multi-Ion Channel Remodeling and Ankyrin-G Scaffold DisruptionSemantic proximity Read

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.Semantic proximity Read

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.Semantic proximity Read

Energetic landscape of polycystin channel gating.Semantic proximity Read

Rapid functional classification of cardiac genetic variants directly informs precision cardiologySemantic proximity Read

Functional profiling of <i>KCNE1</i> variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2Semantic proximity Read