Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family

International Journal of Cardiology

Volumn 142, Issue 2, 2010, Pages 206-208

  Zamorano León, José J ^a   Alonso Orgaz, Sergio ^a   Moreno, Javier ^b   Cinza, Rafael ^b   García Torrent, Maria J ^b   Pérez Castellano, Nicasio ^b   Pérez Villacastín, Julián ^b   Macaya, Carlos ^a,b   López Farré, Antonio J ^a  

^a Cardiovascular Institute   (Spain)

^b Arrhythmia   (Spain)

Author keywords

Arrhythmia; KCNH2; KCNQ1; Long QT syndrome; Mutation

Indexed keywords

GENOMIC DNA; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ELECTROCARDIOGRAPHY; EXON; FEMALE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; LONG QT SYNDROME; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QT INTERVAL; SUDDEN DEATH; SYNCOPE;

ADULT; AMINO ACID SUBSTITUTION; ARGININE; ARRHYTHMIAS, CARDIAC; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HETEROZYGOTE DETECTION; HISTIDINE; HUMANS; LONG QT SYNDROME; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SPAIN;

EID: 77953290070     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2008.11.166     Document Type: Article

References (7)

1. Moss A.J., Schwartz P.J., Crampton R.S., et al. The long-QT syndrome: prospective longitudinal study of 328 families. Circulation 84 (1991) 1136-1144
2. Roberts R. Genomics and cardiac arrhythmias. J Am Coll Cardiol 47 (2006) 9-21
3. Priori S.G., Napolitano C., and Schwartz P.J. Low penetrance in the long-QT syndrome: clinical impact. Circulation 99 (1999) 529-533
4. Alonso-Orgaz S., Zamorano-León J.J., López-Farré A., et al. Arrhytmogenic right ventricular cardiomiopathy with palmoplantar keratoderma in a Spanish patient without plakoglobin and desmoplakin gene modifications. Int J Cardiol 118 (2007) 275-277
5. Zhang L., Timothy K.W., Vincent G.M., et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 102 (2000) 2849-2855
6. Schwartz P.J., Moss A.L., Priori S.G., et al. Gene-specific influence on the triggers for cardiac arrest in the long QT syndrome. Circulation 96 (1997) I-212 Abstract
7. Coats A.J. Ethical authorship and publishing. Int J Cardiol 131 (2009) 149-150