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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.

journal_name

Int J Cardiol

journal_title

International journal of cardiology

authors

Oz S,Yonath H,Visochyk L,Ofek E,Landa N,Reznik-Wolf H,Ortiz-Genga M,Monserrat L,Ben-Gal T,Goitein O,Beinart R,Glikson M,Freimark D,Pras E,Arad M,Nof E

doi

10.1016/j.ijcard.2020.04.005

subject

Has Abstract

pub_date

2020-10-15 00:00:00

pages

133-138

eissn

0167-5273

issn

1874-1754

pii

S0167-5273(19)36064-4

journal_volume

317

pub_type

杂志文章

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