CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

ABSTRACT:

Background

Biallelic variants of the CASQ2 are known to cause the autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease that predisposes young individuals to syncope and sudden cardiac death. To date, only about 24 CASQ2 variants have been reported in association with CPVT pathogenesis; furthermore, studies in Asians, especially in the Chinese population, are relatively rare. The aim of this study was to detect CASQ2 variants in Chinese patients with CPVT.

Methods

We used targeted next-generation sequencing (NGS) to identify CASQ2 variants in Chinese patients with CPVT. A screening process was performed to prioritize rare variants of potential functional significance. Sanger sequencing was conducted to conform the cand

SUBMITTER: Li Q 

PROVIDER: S-EPMC6825949 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature