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Updated: Nov 7, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
A Novel Mutation in the KCNH2 Gene Associatedwith Long QT Syndrome: A Case Report
1Department of Cardiology, The Affiliated Hospital of Southwest Medical University, China.
Objective:
Long QT syndrome is a cardiovascular disease with a prolonged QT interval.
Case Report:
We report a 22-year-old woman presenting with frequent syncopal episodes two months after childbirth. Electrocardiography showed a sinus rhythm, QT interval prolongation, and Torsade de Pointes. Her mother had experienced an episode of syncope, but her father had not. Genetic analyses revealed that a new mutation in the KCNH2 gene, the c.2108dupA mutation (p.H703Qfs*20, exon8, M_000238), was found in the patient and in her mother and sister.
Conclusion:
The c.2108dupA mutation (p.H703Qfs*20, exon8, M_000238) is the first reported case of a KCNH2 mutation at this site.
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