PubMed 21496174

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv11.1 , Kv7.1

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

Authors: Liliana Sintra Grilo, Jürg Schläpfer, Florence Fellmann, Hugues Abriel

Journal, date & volume: Ann Noninvasive Electrocardiol, 2011 Apr , 16, 213-8

PubMed link:

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 mutation-specific risk assessment in this population.