Journal: International Journal of Legal Medicine

Abbreviation

Int. j. leg. med.

Publisher

Springer

Journal Volumes

ISSN

0937-9827
1437-1596

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Publications 1 - 4 of 4
  • Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes
    Item type: Journal Article
    Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; et al. (2018)
    International Journal of Legal Medicine
  • Reconstruction of a case of thallium poisoning using LA-ICP-SFMS
    Item type: Journal Article
    Hann, Stephan; Latkoczy, Christopher; Bereuter, Thomas L.; et al. (2005)
    International Journal of Legal Medicine
  • Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases
    Item type: Journal Article
    Neubauer, Jacqueline; Wang, Shouyu; Russo, Giancarlo; et al. (2021)
    International Journal of Legal Medicine
    Sudden unexplained death (SUD) takes up a considerable part in overall sudden death cases, especially in adolescents and young adults. During the past decade, many channelopathy- and cardiomyopathy-associated single nucleotide variants (SNVs) have been identified in SUD studies by means of postmortem molecular autopsy, yet the number of cases that remain inconclusive is still high. Recent studies had suggested that structural variants (SVs) might play an important role in SUD, but there is no consensus on the impact of SVs on inherited cardiac diseases. In this study, we searched for potentially pathogenic SVs in 244 genes associated with cardiac diseases. Whole-exome sequencing and appropriate data analysis were performed in 45 SUD cases. Re-analysis of the exome data according to the current ACMG guidelines identified 14 pathogenic or likely pathogenic variants in 10 (22.2%) out of the 45 SUD cases, whereof 2 (4.4%) individuals had variants with likely functional effects in the channelopathy-associated genes SCN5A and TRDN and 1 (2.2%) individual in the cardiomyopathy-associated gene DTNA. In addition, 18 structural variants (SVs) were identified in 15 out of the 45 individuals. Two SVs with likely functional impairment were found in the coding regions of PDSS2 and TRPM4 in 2 SUD cases (4.4%). Both were identified as heterozygous deletions, which were confirmed by multiplex ligation-dependent probe amplification. In conclusion, our findings support that SVs could contribute to the pathology of the sudden death event in some of the cases and therefore should be investigated on a routine basis in suspected SUD cases.
  • Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases
    Item type: Journal Article
    Neubauer, Jacqueline; Haas, Cordula; Bartsch, Christine; et al. (2016)
    International Journal of Legal Medicine
Publications 1 - 4 of 4