Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

ABSTRACT: We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2-fold reduction in protein expression and current density due to a maturation/trafficking-deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and m

SUBMITTER: Grilo LS 

PROVIDER: S-EPMC6932128 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature