A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
Adult
Aged
Aged, 80 and over
Calcium Signaling
/ genetics
Connexins
/ genetics
Death, Sudden
/ epidemiology
Female
HEK293 Cells
Humans
Male
Membrane Proteins
/ genetics
Middle Aged
Myocardial Ischemia
/ genetics
Phosphoproteins
/ genetics
Protein Domains
/ genetics
Protein Serine-Threonine Kinases
/ genetics
Ryanodine Receptor Calcium Release Channel
/ genetics
Torsades de Pointes
/ complications
Ventricular Fibrillation
/ genetics
Exome Sequencing
Gap Junction alpha-5 Protein
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
04 03 2021
04 03 2021
Historique:
received:
24
06
2020
accepted:
03
02
2021
entrez:
5
3
2021
pubmed:
6
3
2021
medline:
15
12
2021
Statut:
epublish
Résumé
Idiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics of which are poorly understood. A man who had a first syncope at the age of 35 presented with frequent short-coupled premature ventricular beats with bursts of polymorphic ventricular tachycardia and then died suddenly. By exome sequencing, we identified three rare variants: p.I784F in the SPRY1 of the ryanodine receptor 2 (RyR2), p.A96S in connexin 40 (Cx40), reported to affect electrical coupling and cardiac conduction, and a nonsense p.R244X in the cardiac-specific troponin I-interacting kinase (TNNI3K). We assessed intracellular Ca
Identifiants
pubmed: 33664309
doi: 10.1038/s41598-021-84373-9
pii: 10.1038/s41598-021-84373-9
pmc: PMC7970841
doi:
Substances chimiques
Connexins
0
Membrane Proteins
0
Phosphoproteins
0
RyR2 protein, human
0
Ryanodine Receptor Calcium Release Channel
0
SPRY1 protein, human
0
Protein Serine-Threonine Kinases
EC 2.7.11.1
TNNI3K protein, human
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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