| Title: | Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth |
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| Authors: | ID Dolanc Merc, Maja (Author)
ID Kotnik, Urška (Author)
ID Peterlin, Borut (Author)
ID Lovrečić, Luca (Author) |
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| Files: |  PDF - Presentation file, download (419,80 KB)
MD5: E410D4C29C90589773B2AA7708763014
 URL - Source URL, visit https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.6616
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Objective: To explore genetic variation including whole genome copy numbervariation and sequence analysis of 98 genes associated with pediatric or adultcardiomyopathies, cardiac channelopathies, and sudden death in an unexplainedintrauterine fetal death cohort.Methods: The study population included 55 stillbirth cases that remained unex-plained after thorough postmortem examination, excluding maternal, fetal, andplacental causes of stillbirth. Molecular karyotyping was performed in 55 cases andthe trio exome sequencing approach was applied in 19 cases.Results: The analysis revealed six rare variants with predicted effects on proteinfunction in six genes (CASQ2, DSC2, KCNE1, LDB3, MYH6, and SCN5A) previouslyreported in cases of stillbirth or severe early onset pediatric cardiac related phe-notypes. When applying strict American College of Genetics and Genomics classi-fication guidelines, these are still variants of uncertain significance.Conclusions: Several potentially stillbirth-related genetic variants were detected inour cohort, adding to the growing literature on cardiac phenotype gene variation instillbirth. However, the mechanisms of action, gene-gene interaction, and contri-bution of the uterine environment are still to be deciphered. In order to advance ourknowledge of the genetics of unexplained fetal death, there is an evident need forinternational collaboration and field standardization |
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| Keywords: | stillbirth, genetic approach |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1062-1072 |
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| Numbering: | Letn. 44, št. 9 |
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| PID: | 20.500.12556/DiRROS-30315  |
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| UDC: | 575 |
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| ISSN on article: | 0197-3851 |
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| DOI: | 10.1002/pd.6616 |
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| COBISS.SI-ID: | 202250499 |
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| Publication date in DiRROS: | 19.06.2026 |
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| Views: | 44 |
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| Downloads: | 28 |
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