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.
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.
Analysis of the entire coding region of the HERG gene of 39 Finnish LQTS patients revealed eight mutations, six of which are hitherto unreported. All these mutations are located in the evolutionarily conserved regions of HERG, including the transmembrane domains (P451L, Y569H, 1631delAG, G584S, G601S, T613M) and the cytoplasmic N-terminus (453delC, R176W) of the channel. Our present and earlier results suggest that the LQT2 subtype accounts for approximately 20-30% of LQTS cases in Finland. We also report the first common amino acid polymorphism (K897T) of the HERG channel, with allele frequencies of 0.84 and 0.16. Investigation of 170 genetically homogenous LQT1 patients suggests that this polymorphism may influence QT interval in female individuals.
Laitinen et al. (Sat,) conducted a 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.
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