Novel missense mutation (G601S) of HERG in a japanese long QT syndrome family

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Akimoto, Kaoru ^a,b   Furutani, Michiko ^a   Imamura, Shin ichiro ^a   Furutani, Yoshiyuki ^a   Kasanuki, Hiroshi ^a   Takao, Atsuyoshi ^a   Momma, Kazuo ^a   Matsuoka, Rumiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF MIYAZAKI   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CATION TRANSPORT PROTEIN; COMPLEMENTARY DNA; DNA; DNA BINDING PROTEIN; ERG PROTEIN, HUMAN; ERG1 POTASSIUM CHANNEL; GLYCINE; KCNH2 PROTEIN, HUMAN; KCNH6 PROTEIN, HUMAN; POTASSIUM CHANNEL; POTASSIUM CHANNEL HERG; SERINE; TRANSACTIVATOR PROTEIN; VOLTAGE GATED POTASSIUM CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; CODON; FAMILY HEALTH; GENETICS; HUMAN; JAPAN; LONG QT SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; ARRHYTHMOGENESIS; CHROMOSOME 7; CLINICAL ARTICLE; FAMILIAL DISEASE; GENE DELETION; GENE LOCATION; GENETIC LINKAGE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CODON; DNA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; ETHER-A-GO-GO POTASSIUM CHANNELS; FAMILY HEALTH; GLYCINE; HUMANS; JAPAN; LONG QT SYNDROME; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SERINE; TRANS-ACTIVATORS;

EID: 0031975960     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110159     Document Type: Article

References (13)

1. Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joh-o K, Kawana M, Takao A, Hosoda S, Momma K (1995) Missense mutation of the B-cardiac myosin heavy-chain gene in hypertrophic cardiomyopa-thy. Am J Med Genet 58:267-276.
2. Benson DW, MacRae CA, Vesely MR, Walsh EE Seidman JG, Seidman CE, Satler CA (1996) Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 93:1791-1795.
3. Curran ME, Splawski I, Timothy KW, Vincent M, Green ED, Keating MT (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80:795-803.
4. Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M (1991) Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 252:704-706.
5. Moss AJ, Zareba W, Benhorin J, Locati EH, Hall JW, Robinson JL, Schwartz PJ, Towbin JA, Vincent GM, Lehmann MH, Keating MT, MacCluer JW, Timothy KW (1995) ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 92:2929-2934.
6. Sanguinetti MC, Jiang C, Curran ME, Keating MT (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the 1 potassium channel. Cell 81:229-307.
7. Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP Marec HL, Pascal O (1995) Mapping of a gene for long QT syndrometo chromosome 4q25-27. Am J Hum Genet 57:1114-1122.
8. Schulze-Bahr E, Haverkamp W, Funke H (1995) The long QT syndrome. N Engl J Med 333:1783-1784.
9. Smith PL, Baukrowitz T, Yellen G (1996) The inward rectification mechanism of the HERG cardiac potassium channel. Nature 3791:833-836.
10. TrudeauMC,WarmkeJW,GanetzkyB, Robertson GA (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family. Science 269:92-95.
11. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT (1995a) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-811.
12. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT (1995b) Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhyth-mia. Hum Mol Genet 4:1603-1607.
13. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay T], Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations causes cardiac arrhythmias. Nature Genet 12:17-23.