Header

UZH-Logo

Maintenance Infos

Functional implications of a rare variant in the sodium channel β1B subunit ( SCN1B ) in a 5-month-old male sudden infant death syndrome case


Neubauer, Jacqueline; Rougier, Jean-Sébastien; Abriel, Hugues; Haas, Cordula (2018). Functional implications of a rare variant in the sodium channel β1B subunit ( SCN1B ) in a 5-month-old male sudden infant death syndrome case. HeartRhythm Case Reports, 4(5):187-190.

Abstract

Key Teaching Points • Sudden infant death syndrome (SIDS) is defined as the sudden death of a healthy infant younger than 1 year of age without any obvious cause of death. Despite intensive genetic investigations, the underlying pathophysiological mechanism still remains elusive in most of the cases. • Whole-exome sequencing in a 5-month-old male infant identified a heterozygous missense variant in the β1B subunit of SCN1B. Electrophysiological recordings of Nav1.5 co-expressed with the β1B subunit variant p.R225C induced a loss of function of Nav1.5 channels. • The loss of function might have contributed to the sudden death event in this infant; however, further investigations are needed. This study demonstrates the importance of careful evaluation of likely pathogenic variants identified within next-generation sequencing approaches for an accurate interpretation of genetic results.

Abstract

Key Teaching Points • Sudden infant death syndrome (SIDS) is defined as the sudden death of a healthy infant younger than 1 year of age without any obvious cause of death. Despite intensive genetic investigations, the underlying pathophysiological mechanism still remains elusive in most of the cases. • Whole-exome sequencing in a 5-month-old male infant identified a heterozygous missense variant in the β1B subunit of SCN1B. Electrophysiological recordings of Nav1.5 co-expressed with the β1B subunit variant p.R225C induced a loss of function of Nav1.5 channels. • The loss of function might have contributed to the sudden death event in this infant; however, further investigations are needed. This study demonstrates the importance of careful evaluation of likely pathogenic variants identified within next-generation sequencing approaches for an accurate interpretation of genetic results.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Downloads

25 downloads since deposited on 22 Nov 2018
18 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Legal Medicine
Dewey Decimal Classification:340 Law
610 Medicine & health
Scopus Subject Areas:Health Sciences > Cardiology and Cardiovascular Medicine
Uncontrolled Keywords:Cardiology and Cardiovascular Medicine
Language:English
Date:1 May 2018
Deposited On:22 Nov 2018 10:03
Last Modified:11 May 2020 18:10
Publisher:Elsevier
ISSN:2214-0271
OA Status:Green
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/j.hrcr.2018.01.010
Official URL:https://www.heartrhythmcasereports.com/article/S2214-0271(18)30019-8/fulltext
PubMed ID:29915715
Project Information:
  • : FunderSNSF
  • : Grant ID320030_149456
  • : Project TitleGenetic determinants in sudden infant death syndrome (SIDS) and sudden unexplained death syndrome (SUDS)

Download

Green Open Access

Download PDF  'Functional implications of a rare variant in the sodium channel β1B subunit ( SCN1B ) in a 5-month-old male sudden infant death syndrome case'.
Preview
Content: Published Version
Language: English
Filetype: PDF
Size: 579kB
View at publisher
Licence: Creative Commons: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)