LQTS gene LOVD database

Tao Zhang, Arthur Moss, Peikuan Cong, Min Pan, Bingxi Chang, Liangrong Zheng, Quan Fang, Wojciech Zareba, Jennifer Robinson, Changsong Lin, Zhongxiang Li, Junfang Wei, Qiang Zeng, Long QT International Registry Investigators, HVP-China Investigators, Ming Qi, Tao Zhang, Arthur Moss, Peikuan Cong, Min Pan, Bingxi Chang, Liangrong Zheng, Quan Fang, Wojciech Zareba, Jennifer Robinson, Changsong Lin, Zhongxiang Li, Junfang Wei, Qiang Zeng, Long QT International Registry Investigators, HVP-China Investigators, Ming Qi

Abstract

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.

©2010 Wiley-Liss, Inc.

Figures

Figure 1
Figure 1
Homepage of the KCNQ1 database. The main function menu, shown on the left side, contains the four options provided for the users, which is available at the website http://www.genomed.org/LOVD/LQTs/home.php?select_db=KCNQ1.
Figure 2
Figure 2
Details of mutation KCNH2: p.Lys525Asn. In addition to the p.Lys525Asn mutation, the patient carries another mutation KCNH2: p.Arg528Pro. The page also contains the articles reporting the two variants, with a link to their corresponding Pubmed entries. This page is available at http://www.genomed.org/LOVD/LQTs/variants.php?select_db=KCNH2&action=view&view=0001836%2C0000205%2C0
Figure 3
Figure 3
Pie chart showing the proprotion of KCNQ1,KCNH2,SCN5a,KCNE1 and KCNE2 mutation types. “Others” includes mutations in introns, the 5′UTR and 3′ UTR, and silent mutations.

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Source: PubMed

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