Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death

Simons, Eline; Labro, Alain J.; Saenen, Johan; Nijak, Aleksandra; Sieliwonczyk, Ewa; Vandendriessche, Bert; Dąbrowska, Małgorzata; Craenenbroeck, Emeline M. Van; Schepers, Dorien; Laer, Lut Van; Loeys, Bart; Alaerts, Maaike

doi:10.1016/j.ejmg.2021.104322

European Journal of Medical Genetics

2021

DOI: 10.1016/j.ejmg.2021.104322

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Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death

Eline Simons

Alain J. Labro

Johan Saenen

et al.

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2024

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Cited by 2 publications

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“…Table S2: PRISMA 2020 Main Checklist. References [ 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 57 ] are cited in Supplementary Materials.…”

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New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

Tomassini,

Ricchezze,

Fedeli

et al. 2024

Diagnostics

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Sudden unexpected deaths often remain unresolved despite forensic examination, posing challenges for pathologists. Molecular autopsy, through genetic testing, can reveal hidden causes undetectable by standard methods. This review assesses the role of molecular autopsy in clarifying SUD cases, examining its methodology, utility, and effectiveness in autopsy practice. This systematic review followed PRISMA guidelines and was registered with PROSPERO (registration number: CRD42024499832). Searches on PubMed, Scopus, and Web of Science identified English studies (2018–2023) on molecular autopsy in sudden death cases. Data from selected studies were recorded and filtered based on inclusion/exclusion criteria. Descriptive statistics analyzed the study scope, tissue usage, publication countries, and journals. A total of 1759 publications from the past 5 years were found, with 30 duplicates excluded. After detailed consideration, 1645 publications were also excluded, leaving 84 full-text articles for selection. Out of these, 37 full-text articles were chosen for analysis. Different study types were analyzed. Mutations were identified in 17 studies, totaling 47 mutations. Molecular investigations are essential when standard exams fall short in determining sudden death causes. Expertise in molecular biology is crucial due to diverse genetic conditions. Discrepancies in post-mortem protocols affect the validity of results, making standardization necessary. Multidisciplinary approaches and the analysis of different tissue types are vital.

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confidence: 99%

New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

Tomassini,

Ricchezze,

Fedeli

et al. 2024

Diagnostics

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Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests

Del Duca,

Ghamlouch,

Manetti

et al. 2024

JPM

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Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide.

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Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death

Cited by 2 publications

References 28 publications

New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests

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