A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia

Chinese Journal of Medical Genetics

Volumn 25, Issue 3, 2008, Pages 334-337

  Liu, Qian Qian ^a,b,c   Oberti, Carlos ^b   Zhang, Xian Qin ^b,d   Ke, Tie ^b,d   Zhang, Teng ^b   Scheinman, Melvin ^e   Hu, Da Yi ^a   Wang, Qing Kenneth ^b,d  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^b LERNER RESEARCH INSTITUTE   (United States)

^c PEKING UNIVERSITY SHENZHEN HOSPITAL   (China)

^d HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Arrhythmias; CASQ2 gene; Catecholaminergic polymorphic ventricular tachycardia

Indexed keywords

CALSEQUESTRIN; CALSEQUESTRIN 2; PHENYLALANINE;

ARTICLE; ASSAY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

CALSEQUESTRIN; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 46749135655     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Otsu K, Fuji J, Periasamy M, et al. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. Genomics, 1993,17:507-509.
2. Bhuiyan ZA, Hamdan MA, Shamsi ET, et al. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiov Electroph, 2007,18:1060-1066.
3. Lahat H, Pras E, Olender T, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet, 2001,69:1378-1384.
4. Lahat H, Eldar M, Levy-Nissenbaum E, et al Autosomal recessive catecholamine-or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation, 2001,103:2822-2827.
5. 2+ handling and causes complex ventricular arrhythmias in mice. Cardiovasc Res, 2007,75:69-78.
6. Postma AV, Denjoy I, Hoorntje TM, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res, 2002,91:21-26.
7. Terentyev D, Nori A, Santoro M, et al. Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death. Circ Res, 2006,98:1151-1158.
8. di Barletta MR, Viatchenco-Karpinski S, Nori A, et al. Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. Circulation, 2006, 114:1012-1019.
9. 2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest, 2006,116 :2510-2520.
10. Song L, Alcalai R, Arad M, et al. Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest, 2007, 117:1814-1823.
11. Iyer V, Hajjar RJ, Armoundas AA. Mechanisms of abnormal calcium homeostasis in mutations responsible for catecholaminergic polymorphic ventricular tachycardia. Circ Res, 2007,100:e22-31.
12. Mohamed U, Napolitano C, Priori SG. Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia. Cardiovasc Electrophysiol, 2007,18:791-797.