Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring

Europace. 2011 Jan;13(1):130-2. doi: 10.1093/europace/euq331. Epub 2010 Sep 17.


We identified a heterozygous p.Arg2401His mutation of RYR2 by sequencing the DNA of a 7-year-old girl who was referred for catecholaminergic polymorphic ventricular tachycardia (CPVT). Using high-resolution melting assay, we have demonstrated a mosaicism for this mutation in her asymptomatic mother which illustrates the benefit of extensive genetic analysis in CPVT, in particular regarding genetic counselling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anti-Arrhythmia Agents / therapeutic use
  • Child
  • Combined Modality Therapy
  • Defibrillators, Implantable
  • Female
  • Genetic Counseling*
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Nadolol / therapeutic use
  • Pedigree
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Tachycardia, Ventricular / diagnosis
  • Tachycardia, Ventricular / genetics
  • Tachycardia, Ventricular / therapy
  • Treatment Outcome


  • Anti-Arrhythmia Agents
  • Ryanodine Receptor Calcium Release Channel
  • Nadolol

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia