@article{7c436207318c4af8869dab022d232544,
title = "Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews",
abstract = "Background: Filamin C is a cytoskeletal protein expressed in cardiac cells. Nonsense variations in the filamin C gene (FLNC) were associated with dilated and arrhythmogenic cardiomyopathies. Methods and results: We identified an intronic variation in FLNC gene (c.3791-1G > C) in three unrelated Ashkenazi Jewish families with variable expression of arrhythmia and cardiomyopathy. cDNA was prepared from a mutation carrier's cultured skin fibroblasts. Quantitative PCR demonstrated a reduction in total FLNC transcript, and no other FLNC splice variants were found. Single-nucleotide polymorphism (SNP) analysis revealed heterozygous variations in the genomic DNA that were not expressed in the messenger RNA. Immunohistochemical analysis of cardiac sections detected a normal distribution of filamin C protein in the heart ventricles. Conclusion: The transcript that included the FLNC variant was degraded. Haploinsufficiency in filamin C underlies arrhythmogenic cardiomyopathy with variable symptoms.",
keywords = "Arrhythmogenic cardiomyopathy, Filamin C, Gene expression and regulation",
author = "Shimrit Oz and Hagith Yonath and Leonid Visochyk and Efrat Ofek and Natalie Landa and Haike Reznik-Wolf and Martin Ortiz-Genga and Lorenzo Monserrat and Tuvia Ben-Gal and Orly Goitein and Roy Beinart and Michael Glikson and Dov Freimark and Elon Pras and Michael Arad and Eyal Nof",
note = "Publisher Copyright: {\textcopyright} 2020 The Authors",
year = "2020",
month = oct,
day = "15",
doi = "10.1016/j.ijcard.2020.04.005",
language = "אנגלית",
volume = "317",
pages = "133--138",
journal = "International Journal of Cardiology",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",
}