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

Nathalie Roux-Buisson | Zendy; Grégory Egea | Zendy; Isabelle Denjoy | Zendy; Pascale Guicheney | Zendy; Joël Lunardi | Zendy

Open Access

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

Author(s) -

Nathalie Roux-Buisson,

Grégory Egea,

Isabelle Denjoy,

Pascale Guicheney,

Joël Lunardi

Publication year - 2010

Publication title -

ep europace

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.119

H-Index - 102

eISSN - 1532-2092

pISSN - 1099-5129

DOI - 10.1093/europace/euq331

Subject(s) - catecholaminergic polymorphic ventricular tachycardia , medicine , mutation , ryanodine receptor 2 , germline mutation , genetics , somatic cell , germline , asymptomatic , genetic counseling , ryanodine receptor , high resolution melt , genetic testing , gene , genotype , receptor , biology

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.

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