Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia

Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder marked by exercise or stress-induced arrhythmias that lead to syncope or sudden cardiac death. Mutations of the RYR2 gene can cause either CPVT or calcium release deficiency syndrome, with varying impacts on calcium r...

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Bibliographic Details
Main Authors: Ju Hyeon Shin, Taek Kyu Park, Sung-A. Chang, Shin Yi Jang, June Huh, Chang Ahn Seol, Kyoung-Jin Park, Sung Hoon Kim, Duk-Kyung Kim, Hye Bin Gwag, Mi-Ae Jang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
RYR2
catecholaminergic polymorphic ventricular tachycardia
RNA splicing
protein structure
variant interpretation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1581535/full
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