POPDC2 a novel susceptibility gene for conduction disorders.
Action Potentials
Animals
Atrioventricular Block
/ genetics
Bradycardia
/ complications
Cardiac Conduction System Disease
/ genetics
Cell Adhesion Molecules
/ genetics
Cell Line
Genetic Association Studies
Genetic Predisposition to Disease
Heart Conduction System
/ metabolism
Heterozygote
Homozygote
Humans
Leukocytes
/ metabolism
Mice, Transgenic
Muscle Proteins
/ genetics
Mutation
/ genetics
Potassium Channels, Tandem Pore Domain
/ metabolism
RNA
/ metabolism
Sinoatrial Node
/ metabolism
Stress, Physiological
Exome Sequencing
Xenopus laevis
Arrhythmia
Atrioventricular block
Ion channels
Whole exome sequencing
Journal
Journal of molecular and cellular cardiology
ISSN: 1095-8584
Titre abrégé: J Mol Cell Cardiol
Pays: England
ID NLM: 0262322
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
05
02
2020
revised:
22
05
2020
accepted:
09
06
2020
pubmed:
15
6
2020
medline:
13
8
2021
entrez:
15
6
2020
Statut:
ppublish
Résumé
Despite recent progress in the understanding of cardiac ion channel function and its role in inherited forms of ventricular arrhythmias, the molecular basis of cardiac conduction disorders often remains unresolved. We aimed to elucidate the genetic background of familial atrioventricular block (AVB) using a whole exome sequencing (WES) approach. In monozygotic twins with a third-degree AVB and in another, unrelated family with first-degree AVB, we identified a heterozygous nonsense mutation in the POPDC2 gene causing a premature stop at position 188 (POPDC2
Identifiants
pubmed: 32535041
pii: S0022-2828(20)30214-5
doi: 10.1016/j.yjmcc.2020.06.005
pii:
doi:
Substances chimiques
Cell Adhesion Molecules
0
Muscle Proteins
0
POPDC2 protein, human
0
Popdc2 protein, mouse
0
Potassium Channels, Tandem Pore Domain
0
potassium channel protein TREK-1
0
RNA
63231-63-0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
74-83Subventions
Organisme : British Heart Foundation
ID : AA/18/2/34218
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J010383/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/14/46/30911
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/19/13/34247
Pays : United Kingdom
Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest L.Fa has received institutional research grants from European Union, British Heart Foundation, Medical Research Council (UK), DFG and Gilead. L.Fa is listed as inventor on two patents held by University of Birmingham (Atrial Fibrillation Therapy WO 2015140571, Markers for Atrial Fibrillation WO 2016012783).