A novel 5′ splice site mutation of SCN5A associated with Brugada syndrome resulting in multiple cryptic transcripts

被引：1

作者：

Shimada, Toshio ^{[1
]}

Ohkubo, Kimie ^{[2
]}

Abe, Keisuke ^{[1
]}

Watanabe, Ichiro ^{[2
]}

Makita, Naomasa ^{[1
]}

机构：

[1] Nagasaki Univ, Dept Mol Pathophysiol, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

[2] Nihon Univ, Dept Cardiol, Sch Med, Tokyo, Japan

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2012年 / 158卷 / 03期

关键词：

Brugada syndrome; SCN5A; Splicing; Mutation; Acceptor; Exon trapping;

D O I：

10.1016/j.ijcard.2012.04.114

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：441 / 443

页数：4

共 6 条

[1] Brugada syndrome - Report of the second consensus conference - Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association [J].

Antzelevitch, C ;

Brugada, P ;

Borggrefe, M ;

Brugada, J ;

Brugada, R ;

Corrado, D ;

Gussak, I ;

LeMarec, H ;

Nademanee, K ;

Riera, ARP ;

Shimizu, W ;

Schulze-Bahr, E ;

Tan, H ;

Wilde, A .

CIRCULATION, 2005, 111 (05) :659-670

[2] Cryptic 5′ splice site activation in SCN5A associated with Brugada syndrome [J].

Hong, K ;

Guerchicoff, A ;

Pollevick, GD ;

Oliva, A ;

Dumaine, R ;

de Zutter, M ;

Burashnikov, E ;

Wu, YS ;

Brugada, J ;

Brugada, P ;

Brugada, R .

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2005, 38 (04) :555-560

[3] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing [J].

Kapplinger, Jamie D. ;

Tester, David J. ;

Alders, Marielle ;

Benito, Begona ;

Berthet, Myriam ;

Brugada, Josep ;

Brugada, Pedro ;

Fressart, Veronique ;

Guerchicoff, Alejandra ;

Harris-Kerr, Carole ;

Kamakura, Shiro ;

Kyndt, Florence ;

Koopmann, Tamara T. ;

Miyamoto, Yoshihiro ;

Pfeiffer, Ryan ;

Pollevick, Guido D. ;

Probst, Vincent ;

Zumhagen, Sven ;

Vatta, Matteo ;

Towbin, Jeffrey A. ;

Shimizu, Wataru ;

Schulze-Bahr, Eric ;

Antzelevitch, Charles ;

Salisbury, Benjamin A. ;

Guicheney, Pascale ;

Wilde, Arthur A. M. ;

Brugada, Ramon ;

Schott, Jean-Jacques ;

Ackerman, Michael J. .

HEART RHYTHM, 2010, 7 (01) :33-46

[4] Haploinsufficiency in combination with aging causes SCN5A-Linked hereditary Lenegre disease [J].

Probst, V ;

Kyndt, F ;

Potet, F ;

Trochu, JN ;

Mialet, G ;

Demolombe, S ;

Schott, JJ ;

Baró, I ;

Escande, D ;

Le Marec, H .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 41 (04) :643-652

[5] A conserved rnRNA export machinery coupled to pre-mRNA splicing [J].

Reed, R ;

Hurt, E .

CELL, 2002, 108 (04) :523-531

[6] Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy -: art. no. e29 [J].

Rossenbacker, T ;

Schollen, E ;

Kuipéri, C ;

de Ravel, TJL ;

Devriendt, K ;

Matthijs, G ;

Collen, D ;

Heidbüchel, H ;

Carmeliet, P .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (05) :e29

← 1 →