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.