A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern

Archivos de Cardiologia de Mexico

Volumn 77, Issue 4, 2007, Pages 284-287

  Márquez, Manlio F ^a   Cruz Robles, David ^a   Inés Real, Selene ^a   Gallardo, Guillermo J ^a   González Hermosillo, Antonio ^a   Cárdenas, Manuel ^a   Vargas Alarcón, Gilberto ^a  

^a INSTITUTO NACIONAL DE CARDIOLOGÍA IGNACIO CHÁVEZ   (Mexico)

Author keywords

Cardiac arrhythmias; Cardiovascular genetics; Channelopathies; Deletion; Molecular cardiology; Mutation

Indexed keywords

AMINO ACID DERIVATIVE; GENOMIC DNA; MUSCLE PROTEIN; PROTEIN SCN5A; SODIUM; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CLINICAL FEATURE; CODON; CONGENITAL MALFORMATION; CONTROLLED STUDY; DNA EXTRACTION; ELECTROCARDIOGRAPHY; EXON; FRAMESHIFT MUTATION; GENE DELETION; HEART VENTRICLE TACHYCARDIA; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; PREMATURITY; PROTEIN FUNCTION; RECURRENT ABORTION; SCHOOL CHILD; SICK SINUS SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN DEATH;

BRUGADA SYNDROME; CHILD; DEATH, SUDDEN; HUMANS; MALE; MUSCLE PROTEINS; SEQUENCE DELETION; SODIUM CHANNELS; TACHYCARDIA, VENTRICULAR;

EID: 37748998967     PISSN: 14059940     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. nd Ed. Philadelphia Lippincott Williams & Wilkins, 2001, pp 81-107.
2. WANG Q, LI Z, SHEN J, KEATING MT: Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996; 34: 9-16.
3. DUMAINE R, WANG Q, KEATING MT, HARTMANN HA, SCHWARTZ PJ, BROWN AM, ET AL: Multiple mechanisms of Na+ channel-linked long-QT syndrome. Circ Res 1996; 78:916-924.
4. SMITS JP, KOOPMANN TT, WILDERS R, VELDKAMP MW, OPTHOF T, BHUIYAN ZA, ET AL: A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005; 38: 969-681.
5. GRANT AO, CARBONI MP, NEPLIOUEVA V, STARMER CF, MEMMI M, NAPOLITANO C, ET AL: Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002; 110: 1201-1209.
6. KYNDT F, PROBST V, POTET F, DEMOLOMBE S, CHEVALLIER JC, BARO I, ET AL: Novel SCN5A mutation leading either to isolated cardiac conduction de fect or Brugada syndrome in a large French family. Circulation 2001; 104: 3081-3086.
7. SHIRAI N, MAKITA N, SASAKI K, YOKOI H, SAKUMA I, SAKURADA H, ET AL: A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc Res 2002; 53: 348-354.
8. KOBAYASHI T, SHINTANI U, YAMAMOTO T, SHIDA S, ISSHIKI N, TANAKA T, ET AL: Familial occurrence of electrocardiographic abnormalities of the Brugada-type. Intern Med 1996; 35:637-640.
9. MILLER A: A single salting out procedure for extraction DNA from human nucleated cell. Nucleic Acid Res 1998; 16: 1215-1217.
10. ORITA M, IWAHANA H, KANAZAWA H, HAYSHI K, SEKIYA T: Detection of polymorphism's of human DNA by gel electrophoresis as single strand conformation polymorphism. Proc Nat Acad Sci USA. 1989; 86: 2766-2770.
11. ROOK MB, BEZZINA ALSHINAWI C, GROENEWEGEN WA, VAN GELDER IC, VAN GINNEKEN AC, JONGSMA HJ, ET AL: Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res 1999; 44: 507-517.