Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early-onset long QT syndrome and sinoatrial node dysfunction.

ABSTRACT:

Introduction

Long QT syndrome (LQTS) is a life-threatening inherited channelopathy, and prolonged QT intervals easily trigger malignant arrhythmias, especially torsades de pointes and ventricular fibrillation.

Materials and methods

The proband with overlapped phenotypes of LQTS and sinoatrial node dysfunction underwent some necessary examinations, including echocardiography, electrocardiogram (ECG), and Holter monitoring. Next, whole-exome sequencing was performed, and candidate genes were validated by Sanger sequencing. RNA secondary structure and protein physical-chemical parameter analyses were used to predict the possible structural change of the proteins induced by the mutations.

Results

We identified the digenic heterozygous mutations of KCNH2 p.307_308del (NM_0

SUBMITTER: Yang Z 

PROVIDER: S-EPMC8739608 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature