Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

Rodrigo Cabrera Perez; Arbey Hernán Medina Rocha; Joseph Alape; Clara Isabel Bermudez-Santana

doi:10.1016/j.fsir.2022.100300

Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

Título traducido de la contribución: Secuenciación de próxima generación de marcadores moleculares postmortem para respaldar la autopsia medicolegal

Rodrigo Cabrera Perez
, Arbey Hernán Medina Rocha
, Joseph Alape
, Clara Isabel Bermudez-Santana

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

1 Cita (Scopus)

Resumen

En la mayoría de los casos, la muerte súbita e inexplicable (TUS) es causada por arritmias cardíacas hereditarias que los procedimientos de autopsia forense estándar no pueden probar. Por esta razón, el análisis forense debe aplicar otras metodologías para descubrir factores relacionados. Por ejemplo, el análisis molecular post mortem (autopsia molecular) basado en secuenciación de próxima generación representa una herramienta prometedora y eficaz para diagnosticar el TUS. Este análisis permite a los científicos detectar variantes exónicas patógenas conocidas, nuevas y raras o de significado desconocido que podrían estar relacionadas con la causa de la muerte súbita. Utilizando la secuenciación del exoma , identificamos variantes raras del exón en MYBPC3, KCND3, TTN y ANK3 en un caso de TUS masculino de quince años con análisis toxicológico negativo y autopsia que muestra una anomalía microscópica en el desorden de las fibras cardíacas. Nuestros hallazgos sugirieron que este caso podría estar asociado con el síndrome de QT largo de canalopatía cardíaca , tipo 2, como un posible factor causal.

Título traducido de la contribución	Secuenciación de próxima generación de marcadores moleculares postmortem para respaldar la autopsia medicolegal
Idioma original	Inglés estadounidense
Número de artículo	100300
Páginas (desde-hasta)	1-8
Número de páginas	8
Publicación	Forensic Science International: Reports
Volumen	6
DOI	https://doi.org/10.1016/j.fsir.2022.100300
Estado	Publicada - nov. 14 2022

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

Áreas temáticas de ASJC Scopus

Patología y medicina forense

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@article{f6f11cf92c4042e79a587ffaee924ca7,

title = "Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy",

abstract = "In most cases, sudden unexplained death (SUD) is caused by hereditary cardiac arrhythmias that standard forensic autopsy procedures cannot prove. For this reason, forensics analysis must apply other methodologies to uncover related factors. For example, postmortem molecular analysis (molecular autopsy) based on next-generation sequencing represents a promising and effective tool for diagnosing SUD. This analysis allows scientists to detect well-known, new, and rare pathogenic exonic variants or those with unknown significance that could be related to the cause of sudden death. Using exome sequencing, we identified rare exon variants in MYBPC3, KCND3, TTN, and ANK3 in a fifteen-year-old male SUD case with negative toxicology analysis and autopsy showing microscopic abnormality of heart fiber disarray. Our findings suggested that this case might be associated with cardiac channelopathy long QT syndrome, type 2, as a potential causative factor.",

author = "\{Cabrera Perez\}, Rodrigo and \{Medina Rocha\}, \{Arbey Hern{\'a}n\} and Joseph Alape and Bermudez-Santana, \{Clara Isabel\}",

year = "2022",

month = nov,

day = "14",

doi = "10.1016/j.fsir.2022.100300",

language = "English (US)",

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journal = "Forensic Science International: Reports",

issn = "2665-9107",

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TY - JOUR

T1 - Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

AU - Cabrera Perez, Rodrigo

AU - Medina Rocha, Arbey Hernán

AU - Alape, Joseph

AU - Bermudez-Santana, Clara Isabel

PY - 2022/11/14

Y1 - 2022/11/14

N2 - In most cases, sudden unexplained death (SUD) is caused by hereditary cardiac arrhythmias that standard forensic autopsy procedures cannot prove. For this reason, forensics analysis must apply other methodologies to uncover related factors. For example, postmortem molecular analysis (molecular autopsy) based on next-generation sequencing represents a promising and effective tool for diagnosing SUD. This analysis allows scientists to detect well-known, new, and rare pathogenic exonic variants or those with unknown significance that could be related to the cause of sudden death. Using exome sequencing, we identified rare exon variants in MYBPC3, KCND3, TTN, and ANK3 in a fifteen-year-old male SUD case with negative toxicology analysis and autopsy showing microscopic abnormality of heart fiber disarray. Our findings suggested that this case might be associated with cardiac channelopathy long QT syndrome, type 2, as a potential causative factor.

AB - In most cases, sudden unexplained death (SUD) is caused by hereditary cardiac arrhythmias that standard forensic autopsy procedures cannot prove. For this reason, forensics analysis must apply other methodologies to uncover related factors. For example, postmortem molecular analysis (molecular autopsy) based on next-generation sequencing represents a promising and effective tool for diagnosing SUD. This analysis allows scientists to detect well-known, new, and rare pathogenic exonic variants or those with unknown significance that could be related to the cause of sudden death. Using exome sequencing, we identified rare exon variants in MYBPC3, KCND3, TTN, and ANK3 in a fifteen-year-old male SUD case with negative toxicology analysis and autopsy showing microscopic abnormality of heart fiber disarray. Our findings suggested that this case might be associated with cardiac channelopathy long QT syndrome, type 2, as a potential causative factor.

U2 - 10.1016/j.fsir.2022.100300

DO - 10.1016/j.fsir.2022.100300

M3 - Research Article

SN - 2665-9107

VL - 6

SP - 1

EP - 8

JO - Forensic Science International: Reports

JF - Forensic Science International: Reports

M1 - 100300

ER -

Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy

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