Comprehensive Mutation Scanning of LMNA in 268 Patients With Lone Atrial Fibrillation

被引:28
作者
Brauch, Katharine M. [1 ]
Chen, Lin Y. [4 ]
Olson, Timothy M. [1 ,2 ,3 ]
机构
[1] Mayo Clin, Cardiovasc Genet Lab, Rochester, MN 55905 USA
[2] Mayo Clin, Dept Med, Div Cardiovasc Dis, Rochester, MN USA
[3] Mayo Clin, Dept Pediat & Adolescent Med, Div Pediat Cardiol, Coll Med, Rochester, MN USA
[4] Natl Univ Singapore, Div Cardiovasc, Dept Med, Singapore, Singapore
关键词
LAMIN A/C GENE; DILATED CARDIOMYOPATHY;
D O I
10.1016/j.amjcard.2009.01.354
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 I potentially pathogenic mutation. In conclusion, LMNA mutations rarely cause lone AF and routine genetic testing of LMNA in these patients does not appear warranted. (c) 2009 Elsevier Inc. (Am J Cardiol 2009;103:1426-1428)
引用
收藏
页码:1426 / 1428
页数:3
相关论文
共 12 条
[1]   Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation [J].
Arrington, Carnmon B. ;
Sower, C. Todd ;
Chuckwuk, Naormi ;
Stevens, Jeff ;
Leppert, Mark F. ;
Yetman, Anji T. ;
Bowles, Neil E. .
AMERICAN JOURNAL OF CARDIOLOGY, 2008, 102 (05) :629-631
[2]   Cardiac sodium channel mutation in atrial fibrillation [J].
Effinor, Patrick T. ;
Nam, Edwin G. ;
Shea, Marisa A. ;
Milan, David J. ;
Ruskin, Jeremy N. ;
MacRae, Caturn A. .
HEART RHYTHM, 2008, 5 (01) :99-105
[3]   Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation [J].
Ellinor, PT ;
Moore, RK ;
Patton, KK ;
Ruskin, JN ;
Pollak, MR ;
MacRae, CA .
HEART, 2004, 90 (12) :1487-1488
[4]   Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. [J].
Fatkin, D ;
MacRae, C ;
Sasaki, T ;
Wolff, MR ;
Porcu, M ;
Frenneaux, M ;
Atherton, J ;
Vidaillet, HJ ;
Spudich, S ;
De Girolami, U ;
Seidman, JG ;
Seidman, CE ;
Muntoni, F ;
Muehle, G ;
Johnson, W ;
McDonough, B .
NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (23) :1715-1724
[5]   X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation [J].
Karst, Margaret L. ;
Herron, Kathleen J. ;
Olson, Timothy M. .
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2008, 19 (05) :510-515
[6]   Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation [J].
Olson, Timothy M. ;
Alekseev, Alexey E. ;
Liu, Xiaoke K. ;
Park, Sungjo ;
Zingman, Leonid V. ;
Bienengraeber, Martin ;
Sattiraju, Srinivasan ;
Ballew, Jeffrey D. ;
Jahangir, Arshad ;
Terzic, Andre .
HUMAN MOLECULAR GENETICS, 2006, 15 (14) :2185-2191
[7]   Sodium channel mutations and susceptibility to heart failure and atrial fibrillation [J].
Olson, TM ;
Michels, VV ;
Ballew, JD ;
Reyna, SP ;
Karst, ML ;
Herron, KJ ;
Horton, SC ;
Rodeheffer, RJ ;
Anderson, JL .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2005, 293 (04) :447-454
[8]   Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy [J].
Parks, Sharie B. ;
Kushner, Jessica D. ;
Nauman, Deirdre ;
Burgess, Donna ;
Ludwigsen, Susan ;
Peterson, Amanda ;
Li, Duanxiang ;
Jakobs, Petra ;
Litt, Michael ;
Porter, Charles B. ;
Rahko, Peter S. ;
Hershberger, Ray E. .
AMERICAN HEART JOURNAL, 2008, 156 (01) :161-169
[9]   The laminopathies: a clinical review [J].
Rankin, J. ;
Ellard, S. .
CLINICAL GENETICS, 2006, 70 (04) :261-274
[10]   Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy [J].
Takashima, H ;
Boerkoel, CF ;
Lupski, JR .
GENETICS IN MEDICINE, 2001, 3 (05) :335-342