title: LQTS gene LOVD database.
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.
authors.affiliation: James D. Watson Institute of Genome Sciences, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Zhang
authors.forename: Arthur
authors.initials: A
authors.lastname: Moss
authors.forename: Peikuan
authors.initials: P
authors.lastname: Cong
authors.forename: Min
authors.initials: M
authors.lastname: Pan
authors.forename: Bingxi
authors.initials: B
authors.lastname: Chang
authors.forename: Liangrong
authors.initials: L
authors.lastname: Zheng
authors.forename: Quan
authors.initials: Q
authors.lastname: Fang
authors.forename: Wojciech
authors.initials: W
authors.lastname: Zareba
authors.forename: Jennifer
authors.initials: J
authors.lastname: Robinson
authors.forename: Changsong
authors.initials: C
authors.lastname: Lin
authors.forename: Zhongxiang
authors.initials: Z
authors.lastname: Li
authors.forename: Junfang
authors.initials: J
authors.lastname: Wei
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zeng
authors.forename: Ming
authors.initials: M
authors.lastname: Qi
mesh_terms: 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
chemical_list: D007473:Ion Channels
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