Key result
Analysis of the HERG gene in Finnish LQTS patients identified eight mutations (six novel) and a common K897T polymorphism that may influence the QT interval in females.
Population
39 Finnish patients with Long QT Syndrome and a separate cohort of 170 genetically homogenous LQT1 patients.
Design
Cross-sectional
Authors
Loading...
May aid targeted LQTS screening in Finland; extends HERG variant spectrum but should not yet change practice.
Observational (n=209)
The identification of six novel HERG mutations and a common polymorphism (K897T) expands the genetic understanding of Long QT syndrome and suggests sex-specific phenotypic effects on the QT interval.
Laitinen et al. (2000) conducted an observational in Long QT syndrome (n=209). HERG gene mutations and K897T polymorphism was evaluated on Identification of HERG gene mutations and K897T polymorphism allele frequencies. Analysis of the HERG gene in Finnish LQTS patients identified eight mutations (six novel) and a common K897T polymorphism that may influence the QT interval in females.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: