Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family

Cardiovascular Research

Volumn 59, Issue 3, 2003, Pages 612-619

  Ma, Lijuan ^a   Lin, Chunxia ^a   Teng, Siyong ^a   Chai, Yongping ^a   Bähring, Robert ^b   Vardanyan, Vitya ^b   Li, Liang ^a   Pongs, Olaf ^b   Hui, Rutai ^a  

^a FUWAI HOSPITAL   (China)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Arrhythmias; K channel; Long QT syndrome

Indexed keywords

AMINO ACID; ARGININE; DNA; GLYCINE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ1;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CHINESE; CONTROLLED STUDY; ELECTROCARDIOGRAM; ELECTROPHYSIOLOGY; EVALUATION; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; IN VITRO STUDY; KINETICS; LONG QT SYNDROME; MALE; MEMBRANE POTENTIAL; MISSENSE MUTATION; NONHUMAN; OOCYTE; POLYMERASE CHAIN REACTION; POTASSIUM CHANNEL KCNE1; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM; WILD TYPE; XENOPUS;

ADOLESCENT; ADULT; ANIMALS; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; OOCYTES; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SEQUENCE ANALYSIS, DNA; TRANSFECTION; XENOPUS LAEVIS;

EID: 1642290220     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0008-6363(03)00510-8     Document Type: Article

References (32)

1. Priori S.G., Barhanin J., Hauer R.N., et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Parts I and II. Circulation. 99:1999;518-528.
2. Priori S.G., Barhanin J., Hauer R.N., et al. Genetic and molecular basis of cardiac arrhythmias: impact on clinical management. Part III. Circulation. 99:1999;674-681.
3. Vincent G.M. The molecular genetics of the long QT syndrome: genes causing fainting and sudden death. Annu Rev Med. 49:1998;263-274.
4. Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene: KCNQ1 mutations cause cardiac arrhythmias. Nat Genet. 12:1996;17-23.
5. Curran M.E., Splawski I., Timothy K.W., et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 80:1995;795-803.
6. Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T. Mutations in the hKCNE1 gene cause long QT syndrome and suppress IKs function. Nat Genet. 17:1997;338-340.
7. Schulze-Bahr E., Wang Q., Wedekind H., et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet. 17:1997;267-268.
8. Abbott G.W., Sesti F., Splawski I., et al. MiRP1 forms Ikr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 97:1999;175-187.
9. Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 80:1995;805-811.
10. Schott J.J., Charpentier F., Peltier S., et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 57:1995;1114-1122.
11. Yang W.P., Levesque P.C., Little W.A., et al. KCNQ1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci USA. 94:1997;4017-4021.
12. Sanguinetti M.C., Curran M.E., Zou A., et al. Coassembly of K(V)LQT1 and KCNE1 (IsK) proteins to form cardiac I (Ks) potassium current. Nature. 384:1996;78-80.
13. Barhanin J., Lesage F., Guillemare E., et al. K(v)LQT1 and IsK (KCNE1) proteins associate to form the I(Ks) cardiac potassium current. Nature. 384:1996;78-80.
14. Splawski I., Shen J., Timothy K.W., et al. Spectrum of mutations in long-QT syndrome genes. KCNQ1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 102:2000;1178-1185.
15. Schwartz P.J., Moss A.J., Vincent G.M., Crampton R.S. Diagnostic criteria for the long QT syndrome. An update. Circulation. 88:1993;782-784.
16. Kunkel L.M., Smith K.D., Boyer S.H., et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA. 74:1977;1245-1249.
17. Wang Q., Li Z., Shen J., Keating M.T. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics. 34:1996;9-16.
18. Splawski I., Shen J., Timothy K.W., et al. Genomic structure of three long QT syndrome genes: KCNQ1, HERG and KCNE1. Genomics. 51:1998;86-97.
19. Bianchi L., Shen Z., Dennis A.T., et al. Celluar dysfunction of LQT5-KCNE1 mutants: abnormalities of Iks, Ikr and trafficking in long QT syndrome. Hum Mol Genet. 8:1999;1499-1507.
20. Schulze-Bahr E., Schwarz M., Hauenschild S., et al. A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. J Mol Med. 79:2001;504-509.
21. ks channels and channels formed with two KCNE1 mutants that cause long QT syndrome. J Gen Physiol. 12:1998;651-663.
22. Schwartz P.J., Priori S.G., Spazzolini C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 103:2001;89-95.
23. Marx S.O., Kurokawa J., Reiken S., et al. Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science. 295:2002;496-499.
24. Kurokawa J., Chen L., Kass R.S. Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. Proc Natl Acad Sci USA. 100:2003;2122-2127.
25. Takumi T., Moriyoshi K., Aramori I., et al. Alteration of channel activities and gating by mutations of slow ISK potassium channel. J Biol Chem. 266:1991;22192-22198.
26. Romey G., Attali B., Chouabe C., et al. Molecular mechanism and functional significance of the KCNE1 control of the KCNQ1 channel activity. J Biol Chem. 272:1997;16713-16716.
27. Wang K.W., Tai K.K., Goldstein S.A. MinK residues line a potassium channel pore. Neuron. 16:1996;571-577.
28. Tei K.K., Goldstein S.A. The conduction pore of a cardiac potassium channel. Nature. 391:1998;605-608.
29. Tapper A.R., George A.L. KCNE1 subdomains that mediate modulation of and association with KCNQ1. J Gen Physiol. 116:2000;379-390.
30. Melman Y.F., Domenech A., McDonald T.V. Structural determinants of KCNQ1 control by the KCNE family of proteins. J Biol Chem. 276:2001;6439-6444.
31. Melman Y.F., Krumerman A., McDonald T.V. A single transmembrane site in the KCNE-encoded proteins controls the specificity of KCNQ1 channel gating. J Biol Chem. 277:2002;25187-25189.
32. McDonald T.V., Yu Z., Ming Z., et al. A KCNE1-HERG complex regulates the cardiac potassium current I(Kr). Nature. 388:1997;289-292.