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

Grilo, Liliana Sintra; Schläpfer, Jürg; Fellmann, Florence; Abriel, Hugues (2011). Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel. Annals of noninvasive electrocardiology, 16(2), pp. 213-8. Oxford: Wiley 10.1111/j.1542-474X.2011.00419.x

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Ionenkanalkrankheiten

UniBE Contributor:

Grilo, Liliana Sintra and Abriel, Hugues

ISSN:

1082-720X

Publisher:

Wiley

Funders:

[4] Swiss National Science Foundation

Projects:

[12] In vivo relevance of the PY and PDZ-domain binding motifs of the cardiac sodium channel Nav1.5 Official URL

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:20

Last Modified:

06 Dec 2013 13:27

Publisher DOI:

10.1111/j.1542-474X.2011.00419.x

PubMed ID:

21496174

Web of Science ID:

000289640500015

URI:

https://boris.unibe.ch/id/eprint/6855 (FactScience: 211894)

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