title: Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.
abstract: Idiopathic ventricular fibrillation in patients with an electrocardiogram (ECG) pattern of right bundle branch block and ST-segment elevation in leads V1 to V3 (now frequently called Brugada syndrome) is associated with a high incidence of syncopal episodes or sudden death. The disease is inherited as an autosomal dominant trait. Mutations in SCN5A, a cardiac sodium channel gene, have been recently associated with Brugada syndrome. We have analyzed 7 patients from Israel affected with Brugada syndrome. The families of these patients are characterized by a small number of symptomatic members. Sequencing analysis of SCN5A revealed two novel mutations, G35S and R104Q, in two Brugada patients, and a possible R34C polymorphism in two unrelated controls. No mutations were detected in 5 other patients, suggesting genetic heterogeneity. Low penetrance is probably the cause for the small number of symptomatic members in the two families positive for the SCN5A mutations.
authors.affiliation: Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 52621, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Levy-Nissenbaum
authors.forename: M
authors.initials: M
authors.lastname: Eldar
authors.forename: Q
authors.initials: Q
authors.lastname: Wang
authors.forename: H
authors.initials: H
authors.lastname: Lahat
authors.forename: B
authors.initials: B
authors.lastname: Belhassen
authors.forename: L
authors.initials: L
authors.lastname: Ries
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: E
authors.initials: E
authors.lastname: Pras
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002037:Bundle-Branch Block / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007557:Israel; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome; D014693:Ventricular Fibrillation / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels