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Updated: Apr 8, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetics of long-QT syndrome
Yukiko Nakano1, Wataru Shimizu2
1Programs for Biomedical Research Graduate School of Biomedical Science, Division of Frontier Medical Science, Department of Cardiovascular Medicine, Hiroshima University, Hiroshima, Japan.
Abstract:
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible prevalence of sudden cardiac death. The genetic testing plays an important role in the diagnosis of LQTS. A total of 15 genes have been reported for autosomal-dominant forms of Romano-Ward-type congenital LQTS and 2 genes for autosomal-recessive forms of the Jervell and Lange-Nielsen syndrome. In this review, we summarize the recent advances in genetics of LQTS and briefly describe forward perspectives of LQTS investigation.
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