A novel mutation in KVLQT1, L122P, found in a family with autosomal dominant long QT syndrome

American Heart Journal

Volumn 140, Issue 1, 2000, Pages 146-149

  Krahn, Andrew D ^a,b   Wang, Jian ^a,b   Spindler, Bonnie ^a,b   Skanes, Allan C ^a,b   Yee, Raymond ^a,b   Klein, George J ^a,b   Hegele, Robert A ^a,b  

^a University of Western Ontario ^*  (Canada)

^b ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CODON; DNA SEQUENCE; EXERCISE TEST; FAMILY; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; LONG QT SYNDROME; MALE; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; SYNCOPE;

EID: 0033943064     PISSN: 00028703     EISSN: None     Source Type: Journal    
DOI: 10.1067/mhj.2000.106599     Document Type: Article

References (7)

1. Vincent GM, Timothy KW, Leppert M. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 327:1992;846-852.
2. Wang Q, Curran ME, Splawski I. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 12:1996;17-23.
3. Curran ME, Splawski I, Timothy KW. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 80:1995;795-803.
4. Wang Q, Shen J, Li Z. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet. 4:1995;1603-1607.
5. Splawski I, Firouzi M, Lehmann MH. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 17:1997;338-340.
6. Krahn AD, Klein GJ, Yee R. Hysteresis of the RT interval with exercise: a new marker for the long-QT syndrome? Circulation. 96:1997;1551-1556.
7. Moss AJ, Zareba W, Benhorin J. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation. 92:1995;2929-2934.