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
Full text not available from this repository.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) |
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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, 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: |
05 Dec 2022 14:05 |
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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