VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Further exploration of cardiac channelopathy and cardiomyopathy genes in stillbirth
    Dolanc, Maja, dr. med. ...
    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
    Vir: Prenatal diagnosis. - ISSN 0197-3851 (Letn. , št. , 2024, str. 1-11)
    Vrsta gradiva - članek, sestavni del
    Leto - 2024
    Jezik - angleški
    COBISS.SI-ID - 202250499

    Povezava(-e):

    https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.6616
    DOI

vir: Prenatal diagnosis. - ISSN 0197-3851 (Letn. , št. , 2024, str. 1-11)
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