A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome

Chinese Medical Journal

Volumn 126, Issue 16, 2013, Pages 3093-3096

  Gao, Ying ^a   Zhang, Ping ^a   Li, Xue bin ^a   Wu, Cun cao ^a   Guo, Ji hong ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

Deletion mutation; HERG; Inherited arrhythmia; Long QT syndrome; Nonsense mediated decay

Indexed keywords

GENOMIC DNA; MESSENGER RNA;

ADULT; ALLELE; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL EVALUATION; CODON; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; HERG GENE; HUMAN; LONG QT SYNDROME; MALE; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; FRAMESHIFT MUTATION; HUMANS; LONG QT SYNDROME; RNA, MESSENGER;

EID: 84882269053     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.20131307     Document Type: Article

References (20)

1. Delaney J, Mittal S, Sherrid M V. Current perspectives on congenital long QT syndrome. Anadolu Kardiyol Derg 2009; Suppl 2: 3-11.
2. Jackman WM, Clark M, Friday KJ, Aliot EM, Anderson J, Lazzara R. Ventricular tachyarrhythmias in the long QT syndromes. Med Clin North Am 1984; 68: 1079-1109.
3. Jackman WM, Friday KJ, Anderson JL, Aliot EM, Clark M, Lazzara R. The long QT syndromes: a critical review, new clinical observations and a unifying hypothesis. Prog Cardiovasc Dis 1988; 31: 115-172.
4. Moss AJ, Kass RS. Long QT syndrome: From channels to cardiac arrhythmias. J Clin Invest 2005; 115: 2018-2024.
5. On line Mendelian Inheritance in Man, from www.omim.org. Accessed on July 17, 2011.
6. Conti E, Izaurralde E. Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species. Curr Opin Cell Biol 2005; 17: 316-325.
7. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006; 12: 306-316.
8. Gong Q, Zhang L, Vincent GM, Horne BD, Zhou Z. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediatedvmRNA decay in human long-QT syndrome. Circulation 2007; 116: 17-24.
9. Zarraga IG, Zhang L, Stump MR, Gong QM, Vincent GM, Zhou ZF. Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome. Heart Rhythm 2011; 8: 1200-1206.
10. Sun YX, Zhang P, Li XB, Zhang HC, Li JW, Liu G, et al. A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family. Scandinavian Cardiovasc J 2009; 43: 181-186.
11. Stump MR, Gong QM, Packer JD, Zhou ZF. Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation. J Mol Cell Cardiol 2012; 53: 725-733.
12. Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome:ECG findings identify genotypes. Circulation 2000; 102: 2849-2855.
13. Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S. Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet 2001; 38: 705-710.
14. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 25: 402-408.
15. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia:HERG mutations cause long QT syndrome. Cell 1995; 80: 795-803.
16. Gong Q, Zhang L, Vincent GM, Horne BD, Zhou Z. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation 2007; 116: 17-24.
17. Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998; 23: 198-199.
18. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5: 89-99.
19. Zhang J, Maquat LE. Evidence that translation reinitiation abrogates nonsense mediated mRNA decay in mammalian cells. EMBO J 1997; 16: 826-833.
20. Wang L, Wu T. Predictive factors for an effective beta-blocker therapy in Chinese patients with congenital long QT syndrome: A multivariate regression analysis. Exp Clin Cardiol 2004; 9: 193-195.