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

A, Brodehl; J, Weiss; JD, Debus; C, Stanasiuk; B, Klauke; MA, Deutsch; H, Fox; J, Bax; H, Ebbinghaus; A, Gärtner; J, Tiesmeier; T, Laser; A, Peterschröder; B, Gerull; J, Gummert; L, Paluszkiewicz; H, Milting

doi:10.1016/j.yjmcc.2020.03.006

Public

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

Shared by NobleBlocks on Mar 19, 2020 • 12:00 AM UTC

Authors:

Brodehl A

Weiss J

Debus JD

Abstract

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 pa...

Subject

Desmosomes

Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy

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