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Updated: Aug 19, 2026
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Mutation analysis of a Chinese family with inherited long QT syndrome]
Rong Du1, Jun-guo Yang, Wei Li
1Department of Cardiology, Cardiovascular Disease Institute, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 PR China.
Objective:
To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).
Methods:
The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.
Results:
A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.
Conclusion:
The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
