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Forensic Science, Medicine and Pathology

, Volume 14, Issue 3, pp 276–284 | Cite as

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa

  • Barbara Ströh van Deventer
  • Lorraine du Toit-Prinsloo
  • Chantal van Niekerk
Original Article

Abstract

To determine variations in the SCN5A gene linked to inherited cardiac arrhythmogenic disorders in sudden, unexplained infant death (SUID) cases examined at the Pretoria Medico-Legal Laboratory, South Africa. A retrospective study was conducted on SUID cases and controls, analyzing DNA extracted from archived formalin-fixed, paraffin-embedded (FFPE) myocardial tissue samples as well as blood samples. A total of 48 FFPE tissue samples (cases), 10 control FFPE tissue samples and nine control blood samples were included. DNA extracted from all samples was used to test for variations in the SCN5A gene by using high resolution melt (HRM) real-time PCR and sequencing. Genetic analysis showed 31 different single nucleotide variants in the entire study population (n = 67). Five previously reported variants of known pathogenic significance, and 14 variants of benign clinical significance, were identified. The study found 12 different variants in the cases that were not published in any database or literature and were considered novel. Of these novel variants, two were predicted as “probably damaging” with a high level of certainty (found in four case samples), one (identified in another case sample) was predicted to be “possibly damaging” with a 50% chance of being disease-causing, and nine were predicted to be benign. This study shows the significant added value of using genetic testing in determining the cause of death in South African SUID cases. Considering the high heritability of these arrhythmic disorders, post mortem genetic testing could play an important role in the understanding of the pathogenesis thereof and could also aid in the diagnosis and treatment of family members at risk, ultimately preventing similar future cases.

Keywords

Formalin-fixed Paraffin-embedded (FFPE) tissue Long QT syndrome (LQTS) Post mortem genetic testing SCN5A Sudden death Sudden unexplained infant death (SUID) 

Notes

Funding

The authors would like to thank the Genomic Research Institute from the University of Pretoria, South Africa, for funding the research.

Compliance with ethical standards

Ethics approval for this study was obtained from the Faculty of Health Sciences Research Ethics Committee, University of Pretoria (UP) (142/2014).

Conflict of interest

The authors declare that there is no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Barbara Ströh van Deventer
    • 1
  • Lorraine du Toit-Prinsloo
    • 1
    • 2
  • Chantal van Niekerk
    • 3
    • 4
  1. 1.Department of Forensic MedicineUniversity of PretoriaPretoriaSouth Africa
  2. 2.Department of Forensic Medicine, Sydney, Forensic & Analytical Science Services (FASS), NSW Health PathologySydneyAustralia
  3. 3.Department of Chemical PathologyUniversity of PretoriaPretoriaRepublic of South Africa
  4. 4.Department of Chemical PathologyNational Health Laboratory Services (NHLS), Tshwane Academic DivisionPretoriaSouth Africa

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