The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model

Gene
Oriana L YostKathryn M Meurs

Abstract

Causative mutations for familial dilated cardiomyopathy (DCM) have been identified in the phospholamban gene. There are many poorly understood aspects about familial DCM (variable penetrance, expression) which may be studied in natural animal models. We characterized genetic aspects of familial DCM in a canine model with a high incidence of sudden death. A missense G > A mutation in exon 1 of the phospholamban gene that changed an amino acid from arginine to histidine was identified in affected dogs. This variant was predicted to be deleterious. We describe a spontaneous canine model of familial DCM and sudden death with the R9H mutation. In comparison to a reported human family, the variant was highly penetrant and resulted in sudden death. Genetic penetrance of this mutation may be influenced by genetic or environmental modifiers. The dog provides an excellent model in which to study complex aspects of familial DCM.

Citations

Sep 6, 2019·Animal Genetics·V JagannathanUNKNOWN Dog Biomedical Variant Database Consortium (DBVDC)
Jun 21, 2021·The Veterinary Journal·Celine Brugada-TerradellasPascale Smets
Jun 21, 2021·Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology·L ShenC A Pacak

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