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

By Nathalie Roux-Buisson, Grégory Egéa, Isabelle Denjoy, Pascale Guicheney and Joel Lunardi


International audienceWe 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

Topics: MESH : Child, MESH : Pedigree, MESH : Ryanodine Receptor Calcium Release Channel, MESH : Tachycardia, Ventricular, MESH : Treatment Outcome, MESH : Anti-Arrhythmia Agents, MESH : Combined Modality Therapy, MESH : Defibrillators, Implantable, MESH : Female, MESH : Genetic Counseling, MESH : Germ-Line Mutation, MESH : Humans, MESH : Male, MESH : Nadolol, [ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [ SDV.GEN ] Life Sciences [q-bio]/Genetics
Publisher: Oxford University Press (OUP): Policy B
Year: 2011
DOI identifier: 10.1093/europace
OAI identifier: oai:HAL:inserm-00639628v1
Provided by: Hal-Diderot
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