Gene mutation analysis of a Chinese family of congenital long QT syndromes

Objective: To identify the gene mutation in a Chinese family of congenital long QT syndrome (LQTS). Methods: The clinical symptoms and electrocardiograph features were analyzed in order to disclose the related gene of LQTS. The exons of the gene were amplified by polymerase chain reaction. The mutations were screened by direct DNA sequencing. Results: A missense mutation was determined in the LQT2-related HERG gene, a C to T transition at position 1682 resulting in the substitution of valine for an alanine at codon 561. This mutation, Ala561Val, was the hot spot of LQTS and the fistly found mutation in China. Conclusion: A new HERG mutation was reported and the mutation which affects Chinese LQTS patients is same as that affects patients in Europe,American and Japan.