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Article

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.

Journal of molecular and cellular cardiology - 1 Apr 2020

Brodehl Andreas, Weiss Jürgen, Debus Jana Davina, Stanasiuk Caroline, Klauke Bärbel, Deutsch Marcus André, Fox Henrik, Bax Jördis, Ebbinghaus Hans, Gärtner Anna, Tiesmeier Jens, Laser Thorsten, Peterschröder Andreas, Gerull Brenda, Gummert Jan, Paluszkiewicz Lech, Milting Hendrik

Abstract excerpt

AIMS: We aimed to unravel the genetic, molecular and cellular pathomechanisms of DSC2 truncation variants leading to arrhythmogenic cardiomyopathy (ACM). METHODS AND RESULTS: We report a homozygous 4-bp DSC2 deletion variant c.1913_1916delAGAA, p.Q638LfsX647hom causing a frameshift carried by an ACM patient. Whole exome sequencing and comparative genomic hybridization analysis support a loss of heterozygosity in...

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Identifiers

PMID: 32201174
DOI: 10.1016/j.yjmcc.2020.03.006

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