Targeted Mutational Analysis of the RyR2-Encoded Cardiac Ryanodine Receptor in Sudden Unexplained Death: A Molecular Autopsy of 49 Medical Examiner/Coroner's Cases

2004 ◽  
Vol 79 (11) ◽  
pp. 1380-1384 ◽  
Author(s):  
David J. Tester ◽  
Daniel B. Spoon ◽  
Hector H. Valdivia ◽  
Jonathan C. Makielski ◽  
Michael J. Ackerman
Keyword(s):  
Ryanodine Receptor ◽  
Mutational Analysis ◽  
Medical Examiner ◽  
Molecular Autopsy ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Cardiac Ryanodine Receptor

scholarly journals Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young

2016 ◽  
Vol 9 (3) ◽  
pp. 259-265 ◽  
Author(s):  
Jason H. Anderson ◽  
David J. Tester ◽  
Melissa L. Will ◽  
Michael J. Ackerman
Keyword(s):  
Molecular Autopsy ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Whole Exome

Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young

Heart Rhythm ◽  
2014 ◽  
Vol 11 (4) ◽  
pp. 655-662 ◽  
Author(s):  
Richard D. Bagnall ◽  
Jipin Das K ◽  
Johan Duflou ◽  
Christopher Semsarian
Keyword(s):  
Molecular Autopsy ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Exome Analysis

scholarly journals HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ulrike Schön ◽  
Anna Holzer ◽  
Andreas Laner ◽  
Stephanie Kleinle ◽  
Florentine Scharf ◽  
...  
Keyword(s):  
Causal Variant ◽  
Mean Value ◽  
Gene Panel ◽  
Tissue Samples ◽  
Human Phenotype ◽  
Molecular Autopsy ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Whole Exome ◽  
Genetic Assessment

Abstract Background Molecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possible to carry out a comprehensive genetic assessment (whole exome sequencing, WES), which also identifies rare, previously unknown variants. The disadvantage is that a dramatic number of variants must be assessed to identify the causal variant. To improve the evaluation of WES, the human phenotype ontology (HPO) annotation is used internationally for deep phenotyping in the field of rare disease. However, a HPO-based evaluation of WES in SUD has not been described before. Methods We performed WES in tissue samples from 16 people after SUD. Instead of a fixed gene panel, we defined a set of HPO terms and thus created a flexible “virtual gene panel”, with the advantage, that recently identified genes are automatically associated by HPO terms in the HPO database. Results We obtained a mean value of 68,947 variants per sample. Stringent filtering ended up in a mean value of 276 variants per sample. Using the HPO-driven virtual gene panel we developed an algorithm that prioritized 1.4% of the variants. Variant interpretation resulted in eleven potentially causative variants in 16 individuals. Conclusion Our data introduce an effective diagnostic procedure in molecular autopsy of SUD with a non-specific clinical phenotype.

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