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Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.


ABSTRACT: Atrial fibrillation (AF) is a heritable, genetically heterogeneous disorder. To identify gene defects that cause or confer susceptibility to AF, a cohort of 268 unrelated patients with idiopathic forms of familial and sporadic AF was recruited. LMNA, encoding the nuclear membrane proteins, lamin A/C, was selected as a candidate gene for lone AF based on its established association with a syndrome of dilated cardiomyopathy, conduction system disease, and AF. Comprehensive mutation scanning identified only 1 potentially pathogenic mutation. In conclusion, LMNA mutations rarely cause lone AF and routine genetic testing of LMNA in these patients does not appear warranted.

SUBMITTER: Brauch KM 

PROVIDER: S-EPMC2697665 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature

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Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.

Brauch Katharine M KM   Chen Lin Y LY   Olson Timothy M TM  

The American journal of cardiology 20090401 10


Atrial fibrillation (AF) is a heritable, genetically heterogeneous disorder. To identify gene defects that cause or confer susceptibility to AF, a cohort of 268 unrelated patients with idiopathic forms of familial and sporadic AF was recruited. LMNA, encoding the nuclear membrane proteins, lamin A/C, was selected as a candidate gene for lone AF based on its established association with a syndrome of dilated cardiomyopathy, conduction system disease, and AF. Comprehensive mutation scanning identi  ...[more]

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