A novel mutation - L539fs/47 of hERG in a Chinese long QT syndrome family / 西安交通大学学报·英文版

ABSTRACT

Objective: To identify the mutation of human ether-a-go-go-related gene (hERG) and analyze the clinical characteristics of a Chinese family with long ST syndrome (LQTS). Methods: The electrocardiogram and DNA samples were obtained from a Chinese LQTS family of 26 members. Genotype was performed with polymorphic short tandem repeat (STR) markers at the known LQT1, LQT2, and LQT3 loci. SSCP analysis was used to find aberrant conformers. hERG mutation was confirmed by cloning and sequencing. Results: Three gene carriers were linked to chromosome 7q35-36, where the potassium channel gene hERG was encoded. A 19-base pair deletion was identified. The mutation was located at nucleotide position 1619-1637 between transmembrane domains S4 and S5. Furthermore, A1692G polymorphism was found both in the normal control and patients. Conclusion: A novel 19 bp deletion mutation of hERG is identified in a Chinese family. All gene carriers are demonstrated to be typical LQT2 ECG phenotype.