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

J Mol Cell Cardiol. 2007 Jul;43(1):63-72. doi: 10.1016/j.yjmcc.2007.04.012. Epub 2007 May 4.

Abstract

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 reversible upon cessation of these compounds. On the other hand the mutation was responsible for a symptomatic congenital LQTS in a Dutch family, displaying a substantial heterogeneity of the clinical symptoms. Biophysical characterization of the p.Pro347Ser potassium channels using whole-cell patch clamp experiments revealed a novel pathogenic mechanism of reciprocal changes in the inactivation kinetics combined with a dominant-negative reduction of the functional expression in the heterozygous situation, yielding a modest genetic predisposition for LQTS. Our data show that in the context of the multi-factorial aetiology underlying LQTS a modest reduction of the repolarizing power can give rise to a spectrum of phenotypes originating from one mutation. This observation increases the complexity of genotype-phenotype correlations in more lenient manifestations of the disease and underscores the difficulty of predicting the expressivity of the LQTS especially for mutations with a more subtle impact such as p.Pro347Ser.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Amino Acid Substitution / genetics
  • Base Sequence
  • Canada
  • Cell Line
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Female
  • Genetic Diseases, Inborn*
  • Humans
  • Long QT Syndrome / genetics*
  • Netherlands
  • Pedigree
  • Phenotype
  • Point Mutation
  • White People

Substances

  • Ether-A-Go-Go Potassium Channels