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

Nathalie Roux-Buisson; Grégory Egéa; Isabelle Denjoy; Pascale Guicheney; Joel Lunardi

doi:10.1093/europace/euq331

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.

Authors

Nathalie Roux-Buisson¹, Grégory Egéa, Isabelle Denjoy, Pascale Guicheney, Joel Lunardi

Affiliation

¹ Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, Grenoble, France. nrouxbuisson@chu-grenoble.fr

PMID: 20851825
DOI: 10.1093/europace/euq331

Abstract

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

Substances

Anti-Arrhythmia Agents
Ryanodine Receptor Calcium Release Channel
Nadolol

Supplementary concepts

Polymorphic catecholergic ventricular tachycardia