A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes.

@article{Saenen2007ASH,
  title={A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes.},
  author={Johan B. Saenen and Aimee D C Paulussen and Roselie J. E. Jongbloed and Carlo L. M. Marcelis and Ronaldus A. H. J. Gilissen and Jeroen Aerssens and Dirk Snyders and Adam L. Raes},
  journal={Journal of molecular and cellular cardiology},
  year={2007},
  volume={43 1},
  pages={63-72}
}
The long QT syndrome (LQTS) is a multi-factorial disorder that predisposes to life-threatening arrhythmias. Both hereditary and acquired subforms have been identified. Here, we present clinical and biophysical evidence that the hERG mutation c.1039 C>T (p.Pro347Ser or P347S) is responsible for both the acquired and the congenital phenotype. In one case the genotype remained silent for years until the administration of several QT-prolonging drugs resulted into a full-blown phenotype, that was… CONTINUE READING

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