What does this research mean for the field?

The HERG R176W mutation is a population-prevalent variant that predisposes to long QT syndrome, and compound heterozygosity for this and other LQTS mutations modifies the clinical phenotype. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

January 1, 2006Annals of Medicine

The KCNQ1 IVS7-2A>G mutation was associated with a mean QTc of 464 ms and complete loss-of-channel function, while the HERG R176W mutation caused reduced current density, a mean QTc of 448 ms, and was present in 0.9% of blood donors.

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Why the study?

What are the phenotypic and functional characteristics of the KCNQ1 IVS7-2A>G and HERG R176W mutations in patients with long QT syndrome?

Population

700 documented or suspected cases of long QT syndrome, 317 blood donors, and functional studies in COS-7 or…

Design

Cohort

Authors

HFHeidi Fodstad SBSaı̈d Bendahhou JRJean‐Sébastien Rougier

Discussion

Member takes

Overview

HERG R176W may predispose to LQTS at population scale; leaves open its modifier effects in compound heterozygotes pending larger prospective studies.

Structured PICO

What are the phenotypic and functional characteristics of the KCNQ1 IVS7-2A>G and HERG R176W mutations in patients with long QT syndrome?

Population

700 documented or suspected cases of long QT syndrome (LQTS), 317 blood donors, and functional studies in COS-7 or HEK293 cells.

Outcome

Phenotypic characteristics (QTc interval) and functional channel effects (current density, deactivation kinetics) of KCNQ1 IVS7-2A>G and HERG R176W mutations.surrogate

The HERG R176W mutation is a population-prevalent variant that predisposes to LQTS and can modify the clinical phenotype when present as a compound heterozygote.

Cite This Study

Fodstad et al. (2006) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768aff6 https://doi.org/10.1080/07853890600756065

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January 1, 2006Annals of Medicine

The KCNQ1 IVS7-2A>G mutation was associated with a mean QTc of 464 ms and complete loss-of-channel function, while the HERG R176W mutation caused reduced current density, a mean QTc of 448 ms, and was present in 0.9% of blood donors.

View Full Paper

Ask AI

Bookmark

Why the study?

What are the phenotypic and functional characteristics of the KCNQ1 IVS7-2A>G and HERG R176W mutations in patients with long QT syndrome?

Population

700 documented or suspected cases of long QT syndrome, 317 blood donors, and functional studies in COS-7 or…

Design

Cohort

Authors

HFHeidi Fodstad SBSaı̈d Bendahhou JRJean‐Sébastien Rougier

Discussion

Member takes

Overview

HERG R176W may predispose to LQTS at population scale; leaves open its modifier effects in compound heterozygotes pending larger prospective studies.

Structured PICO

What are the phenotypic and functional characteristics of the KCNQ1 IVS7-2A>G and HERG R176W mutations in patients with long QT syndrome?

Population

700 documented or suspected cases of long QT syndrome (LQTS), 317 blood donors, and functional studies in COS-7 or HEK293 cells.

Outcome

Phenotypic characteristics (QTc interval) and functional channel effects (current density, deactivation kinetics) of KCNQ1 IVS7-2A>G and HERG R176W mutations.surrogate

The HERG R176W mutation is a population-prevalent variant that predisposes to LQTS and can modify the clinical phenotype when present as a compound heterozygote.

Cite This Study

Fodstad et al. (2006) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768aff6 https://doi.org/10.1080/07853890600756065

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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