title: Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
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.
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, Grenoble, France. nrouxbuisson@chu-grenoble.fr
authors.forename: Nathalie
authors.initials: N
authors.lastname: Roux-Buisson
authors.forename: Grégory
authors.initials: G
authors.lastname: Egéa
authors.forename: Isabelle
authors.initials: I
authors.lastname: Denjoy
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
authors.forename: Joel
authors.initials: J
authors.lastname: Lunardi
mesh_terms: D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D002648:Child; D003131:Combined Modality Therapy; D017147:Defibrillators, Implantable; D005260:Female; D005817:Genetic Counseling; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D009248:Nadolol / Q000627:therapeutic use; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016896:Treatment Outcome; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D000889:Anti-Arrhythmia Agents; D019837:Ryanodine Receptor Calcium Release Channel; D009248:Nadolol