Key result
Screening of 24 Dutch long-QT syndrome families identified 14 missense mutations in KCNQ1 and HERG, including 8 novel mutations, with genotype-phenotype correlations for cardiac event triggers.
Population
24 Dutch long-QT syndrome (LQTS) families
Design
Cohort
Authors
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May support genetic testing for LQTS diagnosis and stratification; extends mutation spectrum and correlations but remains hypothesis-generating.
Observational (n=24)
The identification of novel KCNQ1 and HERG mutations in Dutch LQTS families highlights the importance of DNA analysis for unequivocal diagnosis and risk stratification, particularly for asymptomatic carriers.
Jongbloed et al. (1999) conducted an observational in Congenital long QT syndrome (cLQTS) (n=24). KCNQ1 and HERG mutations was evaluated on Identification of missense mutations. Screening of 24 Dutch long-QT syndrome families identified 14 missense mutations in KCNQ1 and HERG, including 8 novel mutations, with genotype-phenotype correlations for cardiac event triggers.
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