LQTS gene LOVD database.
The Long QT Syndrome (LQTS) is a group of genetically heterogeneous disorders that predisposes young individuals to ventricular arrhythmias and sudden death. LQTS is mainly caused by mutations in genes encoding subunits of cardiac ion channels (KCNQ1, KCNH2,SCN5A, KCNE1, and KCNE2). Many other genes involved in LQTS have been described recently(KCNJ2, AKAP9, ANK2, CACNA1C, SCNA4B, SNTA1, and CAV3). We created an online database(http://www.genomed.org/LOVD/introduction.html) that provides information on variants in LQTS-associated genes. As of February 2010, the database contains 1738 unique variants in 12 genes. A total of 950 variants are considered pathogenic, 265 are possible pathogenic, 131 are unknown/unclassified, and 292 have no known pathogenicity. In addition to these mutations collected from published literature, we also submitted information on gene variants, including one possible novel pathogenic mutation in the KCNH2 splice site found in ten Chinese families with documented arrhythmias. The remote user is able to search the data and is encouraged to submit new mutations into the database. The LQTS database will become a powerful tool for both researchers and clinicians.
Zhang
Tao
T
James D. Watson Institute of Genome Sciences, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
Moss
Arthur
A
Cong
Peikuan
P
Pan
Min
M
Chang
Bingxi
B
Zheng
Liangrong
L
Fang
Quan
Q
Zareba
Wojciech
W
Robinson
Jennifer
J
Lin
Changsong
C
Li
Zhongxiang
Z
Wei
Junfang
J
Zeng
Qiang
Q
Qi
Ming
M
D030541:Databases, Genetic; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D020407:Internet; D007473:Ion Channels / Q000235:genetics; D008133:Long QT Syndrome / Q000145:classification / Q000235:genetics*; D009154:Mutation
D007473:Ion Channels
Ann Med. 2009;41(3):234-40
19160088
Heart Rhythm. 2006 Jan;3(1):52-5
16399053
Med Biol Eng Comput. 2006 Jul;44(7):543-9
16937190
Am Heart J. 1957 Jul;54(1):59-68
13435203
Curr Probl Cardiol. 2008 Nov;33(11):629-94
18835466
Mayo Clin Proc. 2003 Dec;78(12):1479-87
14661677
Am Heart J. 2006 Dec;152(6):1116-22
17161064
Nat Genet. 1997 Nov;17(3):338-40
9354802
Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9355-60
18591664
Cell. 2004 Oct 1;119(1):19-31
15454078
Nat Genet. 1996 Jan;12(1):17-23
8528244
Nature. 2003 Feb 6;421(6923):634-9
12571597
Circulation. 2004 Apr 20;109(15):1834-41
15051636
Heart Rhythm. 2009 Mar;6(3):341-8
19251209
Heart Rhythm. 2007 Feb;4(2):161-6
17275750
Scand J Clin Lab Invest. 2008;68(5):362-8
18752142
Circulation. 2007 Jan 30;115(4):432-41
17242276
Circ Res. 1999 Dec 3-17;85(12):1206-13
10590249
Heart Rhythm. 2005 Oct;2(10):1128-34
16188595
Hum Mutat. 2005 Aug;26(2):63-8
15977173
Proc Natl Acad Sci U S A. 2007 Dec 26;104(52):20990-5
18093912
Circ J. 2005 May;69(5):567-75
15849444
Genet Test. 2005 Winter;9(4):281-4
16379539
Heart Rhythm. 2009 Feb;6(2):212-8
19187913
Circulation. 2002 Feb 19;105(7):794-9
11854117
Circulation. 2002 Mar 19;105(11):1342-7
11901046
Hum Mutat. 2000;15(1):7-12
10612815
J Mol Cell Cardiol. 2005 Jun;38(6):969-81
15910881
Heart Rhythm. 2007 Apr;4(4):516-9
17399644
Circulation. 2000 Aug 29;102(9):945-7
10961955
Circulation. 2009 Nov 3;120(18):1761-7
19841298
Hum Mutat. 2002 Nov;20(5):382-91
12402336
Genet Test. 2003 Fall;7(3):249-53
14642002
Cell. 2001 May 18;105(4):511-9
11371347
Ann Noninvasive Electrocardiol. 2003 Jul;8(3):246-50
14510661
Circulation. 2006 Nov 14;114(20):2104-12
17060380
Circulation. 2000 Sep 5;102(10):1178-85
10973849
Heart Rhythm. 2008 Sep;5(9):1275-81
18774102
Cell. 1999 Apr 16;97(2):175-87
10219239
Heart Rhythm. 2005 May;2(5):507-17
15840476
Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42
15178757
J Ir Med Assoc. 1964 Apr;54:103-6
14136838
JAMA. 2005 Dec 21;294(23):2975-80
16414944
Hum Mol Genet. 1995 Sep;4(9):1603-7
8541846
Heart Rhythm. 2009 Sep;6(9):1297-303
19716085
Clin Pediatr (Bologna). 1963 Sep;45:656-83
14158288
Cell. 1995 Mar 10;80(5):795-803
7889573
Eur J Hum Genet. 2005 Nov;13(11):1213-22
16132053
J Clin Invest. 2005 Aug;115(8):2018-24
16075042
Heart Rhythm. 2005 Nov;2(11):1218-23
16253912
Circulation. 2007 Jul 10;116(2):134-42
17592081