Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death

Heritable arrhythmia syndromes, including Brugada syndrome (BrS) and idiopathic ventricular fibrillation (IVF), may serve as the pathogenic basis for autopsy‐negative sudden unexplained death (SUD) and sudden infant death syndrome (SIDS). Emerging evidence has linked perturbations in the transient o...

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Veröffentlicht in:Human mutation 2012-06, Vol.33 (6), p.989-997
Hauptverfasser: Giudicessi, John R., Ye, Dan, Kritzberger, Chad J., Nesterenko, Vladislav V., Tester, David J., Antzelevitch, Charles, Ackerman, Michael J.
Format: Artikel
Sprache:eng
Schlagworte:
Action Potentials
Adolescent
Adult
Aged
Amino Acid Sequence
Amino Acid Substitution
arrhythmia
Autopsy
Cell Line
Child
Child, Preschool
Cohort Studies
Death, Sudden, Cardiac - epidemiology
Death, Sudden, Cardiac - etiology
Female
Humans
Infant
ion channels
KCND3
Male
Middle Aged
Mutation
pediatrics
Prevalence
Shal Potassium Channels - genetics
Shal Potassium Channels - metabolism
sudden death
Sudden Infant Death - diagnosis
Sudden Infant Death - epidemiology
Sudden Infant Death - genetics
Young Adult
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Beschreibung
Zusammenfassung:Heritable arrhythmia syndromes, including Brugada syndrome (BrS) and idiopathic ventricular fibrillation (IVF), may serve as the pathogenic basis for autopsy‐negative sudden unexplained death (SUD) and sudden infant death syndrome (SIDS). Emerging evidence has linked perturbations in the transient outward current (Ito) conducted by the KCND3‐encoded Kv4.3 pore‐forming α‐subunit to BrS or IVF. However, the contribution of KCND3 mutations to autopsy‐negative SUD/SIDS is unknown. To investigate the potential association between KCND3 and SUD/SIDS, mutational analysis of KCND3 was conducted in 123 SUDS and 292 SIDS victims using polymerase chain reaction, denaturing high‐performance liquid chromatography, and direct sequencing. Overall, one SIDS case (
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.22058