Document Detail

Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.
MedLine Citation:
PMID:  11960580     Owner:  NLM     Status:  MEDLINE    
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.
E Levy-Nissenbaum; M Eldar; Q Wang; H Lahat; B Belhassen; L Ries; E Friedman; E Pras
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing     Volume:  5     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2001  
Date Detail:
Created Date:  2002-04-18     Completed Date:  2002-05-15     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  331-4     Citation Subset:  IM    
Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 52621, Israel.
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MeSH Terms
Amino Acid Substitution / genetics*
Bundle-Branch Block / genetics*
DNA Mutational Analysis
Genetic Heterogeneity*
Middle Aged
Sodium Channels / genetics*
Ventricular Fibrillation / genetics*
Reg. No./Substance:
0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha

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