What question did this study set out to answer?

The aim is to identify novel mutations in KCNQ1 and HERG associated with congenital long QT syndrome in Dutch families.

March 1, 2026Journal of Marine Fisheries

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

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Key result

Genetic screening of LQTS families identifies 14 KCNQ1 and HERG mutations affecting diagnosis and phenotype triggers.

Population

24 Dutch LQTS families

Design

Genetic screening and genotype-phenotype study

Authors

RJR. J. Jongbloed AWA. A. M. WildeInstitute of Cardiology JGJ. L. Geelen

Discussion

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Implication

Supports genetic screening to identify at-risk asymptomatic LQTS carriers; extends known KCNQ1 and HERG mutational spectrum.

Key Points

The aim is to identify novel mutations in KCNQ1 and HERG associated with congenital long QT syndrome in Dutch families.
Screened 24 Dutch families for mutations in KCNQ1 and HERG.
Identified 14 missense mutations, including 8 novel.
Evaluated mutation pathogenicity through family segregation and absence in controls.
Conducted genotype-phenotype studies to assess triggers for cardiac events.
Identified 14 missense mutations, 8 of which were novel.
Three novel mutations in KCNQ1: Y184S, S373P, W392R.
Five novel mutations in HERG: A558P, R582C, G604S, T613M, F640L.
Asymptomatic carriers identified, but still at risk for arrhythmias.

Structured PICO

Population

24 Dutch families with congenital long QT syndrome (cLQTS)

Intervention

Genetic screening for KCNQ1 and HERG mutations

Outcome

Identification of missense mutations in KCNQ1 and HERG genessurrogate

Genetic screening of Dutch LQTS families identified eight novel missense mutations in KCNQ1 and HERG, emphasizing the value of DNA analysis to identify asymptomatic carriers at risk for life-threatening arrhythmias.

Cite This Study

Jongbloed et al. (1999) studied this question. Fourteen missense mutations in KCNQ1 and HERG were found in Dutch LQTS families, including eight novel mutations affecting disease diagnosis and phenotype triggers.

synapsesocial.com/papers/69a3d6eaec16d51705d2da0a https://doi.org/10.1002/(sici)1098-1004(1999)13:4

Topics

Cardiogenetics and Inherited Cardiac Conditions

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Topics

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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Topics

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