| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5960592 | Heart Rhythm | 2017 | 8 Pages |
Abstract
Six variants of uncertain clinical significance in the PKP2, JUP, and DSG2 genes showed a deleterious effect on mRNA splicing, indicating these are ARVD/C-related pathogenic splice site mutations. These results highlight the importance of functional assessment of potential splice site variants to improve patient care and facilitate cascade screening.
Keywords
DSPdesmosomesDSG2desmocollin-2DSC2PKP2LBBBdesmoplakinPLNRNA analysisTFCMAFRT-PCRARVD/CVUSVentricular arrhythmiasright ventricleleft ventricleLeft bundle branch blockVentricular tachycardiadesmoglein-2Arrhythmogenic right ventricular dysplasia/cardiomyopathyminor allele frequencyphospholambanreverse transcriptase polymerase chain reactionPlakoglobinPlakophilin-2GeneticsJUP
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Authors
Judith A. MD, Amber Ummels, Marcel Mulder, Hennie PhD, Jasper J. MD, Anneke M. van Mil, Tessa MD, Jan G. MD, Arif MD, PhD, Jeroen F. MD, PhD, Arjan C. MD, PhD, Jan D.H. PhD, Arthur A.M. MD, PhD, J. Peter MD, PhD, Richard N. MD, PhD, Dennis PhD,