A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
Catecholamine-induced polymorphic ventricular tachycardia (CPVT), a rare disease that occurs in subjects without obvious organic heart disease, is characterized by episodes of syncope, seizures, or sudden death in response to physiologic or emotional stress. This report reviews evidence that a missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT.
Heart Institute, Sheba Medical Center, Tel Hashomer, Israel. meldar@post.tau.ac.il
Michael
M
Eldar
Elon
E
Pras
Hadas
H
Lahat
D002155:Calsequestrin / Q000235:genetics*; D002395:Catecholamines / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000628:therapy
C443109:CASQ2 protein, human; D002155:Calsequestrin; D002395:Catecholamines