Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.
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.
Brauch
Katharine M
KM
Cardiovascular Genetics Laboratory, College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Chen
Lin Y
LY
Olson
Timothy M
TM
D000328:Adult; D001281:Atrial Fibrillation / Q000235:genetics* / Q000503:physiopathology; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome
D034904:Lamin Type A