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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.

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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
Uncontrolled Keywords:Cardiology and Cardiovascular Medicine
Language:English
Date:1 May 2018
Deposited On:22 Nov 2018 10:03
Last Modified:03 May 2019 09:23
Publisher:Elsevier
ISSN:2214-0271
OA Status:Gold
Free access at:Publisher DOI. 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)

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