Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

To our knowledge, this is the first study reporting a direct phenotype-to-genotype association between the <i>KCNH2</i> 1066C>T variant and drug-induced QT prolongation, supplemented by <i>in silico</i> analyses and ACMG-based variant risk stratification. Our study underscores the importance of recognizing genetic predisposition in drug-induced QT prolongation and motivate further investigation of <i>KCNH2</i> variants within the N-linker region.

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Publication Details

Journal
Frontiers in Genetics
Published
2026-02-24
DOI
https://doi.org/10.3389/fgene.2026.1715155
Primary Topic
Cardiac electrophysiology and arrhythmias
Type
article
Field-Weighted Citation Impact
0.00

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article

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

Mohanakrishnan Sathyamoorthy, Charlene R Norgan Radler, Tianci Wang
Frontiers in Genetics
Cardiac electrophysiology and arrhythmias
article

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation

Mohanakrishnan Sathyamoorthy, Charlene R Norgan Radler, Tianci Wang
article en

Abstract

To our knowledge, this is the first study reporting a direct phenotype-to-genotype association between the <i>KCNH2</i> 1066C>T variant and drug-induced QT prolongation, supplemented by <i>in silico</i> analyses and ACMG-based variant risk stratification. Our study underscores the importance of recognizing genetic predisposition in drug-induced QT prolongation and motivate further investigation of <i>KCNH2</i> variants within the N-linker region.

Frontiers in GeneticsVol. 17
ID Genomics (United States) (US), Consultants in Neurology (US), Accessible Designs (United States) (US)
Texas Christian University
Openalex Percentile: Top 49%
Cardiac electrophysiology and arrhythmias
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