Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring
| Autor: | Nathalie Roux-Buisson, Pascale Guicheney, Grégory Egéa, Isabelle Denjoy, Joël Lunardi |
|---|---|
| Přispěvatelé: | INSERM U836, équipe 4, Muscles et pathologies, Laboratoire de biochimie et génétique moléculaire, CHU Grenoble-CHU Grenoble, CHU Grenoble, Service de Cardiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Génétique, pharmacologie et physiopathologie des maladies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), Roux-Buisson, Nathalie |
| Rok vydání: | 2010 |
| Předmět: |
MESH: Combined Modality Therapy
MESH: Pedigree Genetic counseling Germline mosaicism [SDV.GEN] Life Sciences [q-bio]/Genetics 030204 cardiovascular system & hematology Catecholaminergic polymorphic ventricular tachycardia Genetic analysis Ryanodine receptor 2 MESH: Defibrillators Implantable Germline MESH: Ryanodine Receptor Calcium Release Channel MESH: Nadolol 03 medical and health sciences 0302 clinical medicine [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system MESH: Child Physiology (medical) MESH: Germ-Line Mutation medicine Gene MESH: Treatment Outcome 030304 developmental biology Genetics [SDV.GEN]Life Sciences [q-bio]/Genetics 0303 health sciences MESH: Humans business.industry medicine.disease MESH: Male [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system 3. Good health Mutation (genetic algorithm) cardiovascular system MESH: Tachycardia Ventricular MESH: Anti-Arrhythmia Agents MESH: Genetic Counseling Cardiology and Cardiovascular Medicine business MESH: Female |
| Zdroj: | Scopus-Elsevier EP-Europace EP-Europace, Oxford University Press (OUP): Policy B, 2011, 13 (1), pp.130-2. ⟨10.1093/europace/euq331⟩ EP-Europace, Oxford University Press (OUP), 2011, 13 (1), pp.130-2. ⟨10.1093/europace/euq331⟩ EP-Europace, 2011, 13 (1), pp.130-2. ⟨10.1093/europace/euq331⟩ |
| ISSN: | 1532-2092 1099-5129 |
| DOI: | 10.1093/europace/euq331 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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