Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: Clinical consequences and preventive implications

Clinical Genetics

Volumn 83, Issue 4, 2013, Pages 370-374

  Shinwari, Z M A ^a,b   Al Hazzani, A ^b   Dzimiri, N ^a   Tulbah, S ^a   Mallawi, Y ^c   Al Fayyadh, M ^a,d   Al Hassnan, Z N ^a,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KFSH and RC ^*  (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Inherited arrhythmia; KCNQ1; Long QT syndrome; Syncope

Indexed keywords

POTASSIUM CHANNEL KCNQ1; ERG1 POTASSIUM CHANNEL; KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL HERG; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.5;

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOVASCULAR RISK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; ELECTROCARDIOGRAM; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; KCNH2 GENE; LONG QT SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; SCN5A GENE; ELECTROCARDIOGRAPHY; GENETICS; MIDDLE AGED; MUTATION; PROCEDURES; VERY ELDERLY; YOUNG ADULT;

SYNCOPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; YOUNG ADULT;

EID: 84875002850     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01914.x     Document Type: Article

References (20)

1. Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006: 259: 39-47.
2. Goldenberg I, Zareba W, Moss AJ. Long QT syndrome. J Am Coll Cardiol 2008: 51 (24): 2291-2300.
3. On line Mendelian Inheritance in Man, from www.omim.org. Accessed on July 17, 2011.
4. Tester DJ, Will ML, Haglund CM, Ackerman MJ. Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol 2006: 47 (4): 764-768.
5. Wever EF. Robles de Medina EO. Sudden death in patients without structural heart disease. J Am Coll Cardiol 2004: 43 (7): 1137-1144.
6. Schwartz PJ, Spazzolini C, Priori SG et al. Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them? Data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry. Circulation 2010: 122 (13): 1272-1282.
7. Schwartz PJ. Cutting nerves and saving lives. Heart Rhythm 2009: 6 (6): 760-763.
8. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996: 384 (6604): 78-80.
9. Napolitano C, Priori SG, Schwartz PJ et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005: 294 (23): 2975-2980.
10. Franqueza L, Lin M, Shen J, Splawski I, Keating MT, Sanguinetti MC. Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits. J Biol Chem 1999: 274 (30): 21063-21070.
11. Wang Z, Tristani-Firouzi M, Xu Q, Lin M, Keating MT, Sanguinetti MC. Functional effects of mutations in KvLQT1 that cause long QT syndrome. J Cardiovasc Electrophysiol 1999: 10 (6): 817-826.
12. Priori SG, Napolitano C, Vicentini A. Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management. J Interv Card Electrophysiol 2003: 9 (2): 93-101.
13. Vincent GM, Schwartz PJ, Denjoy I et al. High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures". Circulation 2009: 119 (2): 215-221.
14. Priori SG, Schwartz PJ, Napolitano C et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003: 348: 1866-1874.
15. Goldenberg I, Horr S, Moss AJ et al. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 2011: 57 (1): 51-59.
16. Crotti L, Monti MC, Insolia R et al. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 2009: 120 (17): 1657-1663.
17. Nishio Y, Makiyama T, Itoh H et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 2009: 54 (9): 812-819.
18. Schwartz PJ. Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. J Am Coll Cardiol 2010: 55 (23): 2577-2579.
19. Bhuiyan ZA, Momenah TS, Gong Q et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 2008: 5 (4): 553-561.
20. Schwartz PJ, Spazzolini C, Crotti L et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006: 113 (6): 783-790.