Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of Long QT syndrome.

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Authors

RAUDENSKÁ Martina BITTNEROVÁ Alexandra NOVOTNÝ Tomáš FLORIÁNOVÁ Alena CHROUST Karel GAILLYOVÁ Renata SEMRÁD Bořivoj KADLECOVÁ Jitka ŠIŠÁKOVÁ Martina TOMAN Ondřej ŠPINAR Jindřich

Year of publication 2008
Type Article in Periodical
Magazine / Source Physiological Research
MU Faculty or unit

Faculty of Medicine

Citation
Field Genetics and molecular biology
Keywords SCN1B; KCND3; ANK2; Long QT Syndrome; Mutational Screening
Description In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS. About 50-60% of LQTS patients have an identifiable LQTS causing mutation in one of mentioned genes. In a group of 12 LQTS patients with no identified mutations in these genes we have tested a hypothesis that other candidate genes could be involved in LQTS pathophysiology. SCN1B and KCND3 genes encode ion channel proteins, ANK2 gene encodes cytoskeletal protein interacting with ion channels. Five polymorphisms were found in screened candidate genes, 2 polymorphisms in KCND3 and 3 in SCN1B. None of found polymorphisms has coding effect nor is located close to splice sites or has any similarity to known splicing enhancer motifs. Polymorphism G246T in SCN1B is a novel one. No mutation directly causing LQTS was found. Molecular mechanism of LQTS genesis in these patients remains unclear.
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