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Article

A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome.

International journal of molecular sciences - 13 Aug 2023

Cheng Yu-Wen, Wu Chia-Tung, Chang Chi-Jen, Yeh Yung-Hsin, Chang Gwo-Jyh, Tsai Hsin-Yi, Hsu Lung-An

Abstract excerpt

KCNH2 loss-of-function mutations cause long QT syndrome type 2 (LQT2), an inherited cardiac disorder associated with life-threatening ventricular arrhythmia. Through whole-exome sequencing, we discovered a novel AGCGACAC deletion (S981fs) in the hERG gene of an LQT2 patient. Using a heterologous expression system and patch clamping, we found that the mutant K channel had reduced cell surface expression and lower...

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Identifiers

PMID: 37628921
DOI: 10.3390/ijms241612742
PMCID: PMC10454316

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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