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Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations by Wattanasirichaigoon, Duangrurdee; Vesely, Mark R.; Duggal, Priya; Levine, Jami C.; Blume, Elizabeth D.; Wolff, Grace S.; Edwards, Sam B.; Beggs, Alan H. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations about?
Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a recurring three amino acid deletion (⌬KPQ1505-1507) in four different families, and four different missense mutations. We have examined the SCN5A gene in 88 index cases with LQTS, including four with Jervell and Lange-Nielsen syndrome and the remainder with Romano-Ward syndrome. Screening portions of DIII-DIV, where mutations have previously been found, showed that none of these patients h a s t h e t h r e e a m i n o a c i d d e l e t i o n , ⌬KPQ1505-1507, or the other four known mutations. We identified a novel missense mutation, T1645M, in the DIV; S4 voltage sensor immediately adjacent to the previously reported mutation R1644H. We also examined all of the additional pore-forming regions and voltage-sensing regions and discovered another novel mutation, T1304M, at the voltage-sensing region DIII; S4. Neither T1645M nor T1304M were seen in a panel of unaffected control individuals.
Who reads Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Wattanasirichaigoon, Duangrurdee; Vesely, Mark R.; Duggal, Priya; Levine, Jami C.; Blume, Elizabeth D.; Wolff, Grace S.; Edwards, Sam B.; Beggs, Alan H.
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1999
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)