Molecular genetics of long-QT syndrome

Current Opinion in Pediatrics

Volumn 10, Issue 6, 1998, Pages 628-634

  Wattanasirichaigoon, Duangrurdee ^a   Beggs, Alan H ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; POTASSIUM CHANNEL; SODIUM CHANNEL;

AUTOSOMAL DOMINANT DISORDER; BASAL CELL NEVUS SYNDROME; FAMILY HEALTH; GENE CONTROL; GENE MUTATION; GENE THERAPY; HEART REPOLARIZATION; HEART VENTRICLE ARRHYTHMIA; HUMAN; LONG QT SYNDROME; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; SUDDEN DEATH; SYNCOPE;

EID: 0031753675     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199810060-00016     Document Type: Review

References (58)

1. Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin J, Vincent GM: Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation 1996, 94:1996-2012.
2. Schwartz PJ, Moss AJ, Priori SG, Wang Q, Lehmann MH, Timothy K, et al.: Gene-specific influence on the triggers for cardiac arrest in the long QT syndrome. Circulation 1997, 96(suppl):1-212.
3. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, et al.: The long QT syndrome: Prospective longitudinal study of 328 families. Circulation 1991, 84:1136-1144.
4. Pacia SV, Devinsky O, Luciano DJ, Vazquez B: The prolonged QT syndrome presenting as epilepsy: A report of two cases and literature review. Neurology 1994, 44:1408-1410.
5. Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantu F, Towbin JA, et al.: Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995, 92:3381-3386.
6. Lehmann MH, Timothy KW, Frankovich D, Fromm BS, Keating M, Locati EH, et al.: Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome. J Am Coll Cardiol 1997, 29:93-99.
7. van den Berg MH, Wilde AA, Robles de Medina EO, Meyer H, Geelen JL, Jongbloed RJ, Wellens HJ, Geraedts JP: The long QT syndrome: A novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet 1997, 100:356-361.
8. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS: Diagnostic criteria for the Long QT syndrome: An update. Circulation 1993, 88:782-784.
9. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al.: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995, 80:805-811.
10. Moss AJ, Zareba W, Benhorin J, Locati EH, Hall WJ, Robinson JL, et al.: ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995, 92:2929-2934.
11. Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R, et al.: Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 1998, 338:1709-1714. Provides strong circumstantial evidence implicating cardiac repolarization abnormalities as a cause of sudden infant death syndrome.
12. Wang Q, Curran ME, Splawski I, Bum TC, Millholland JM, VanRaay TJ, et al.: Positional cloning of a novel potassium channel: KVLQT1 mutations cause cardiac arrhythmia. Nat Genet 1996, 12:17-23.
13. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G: KvLQT1 and IsK(minK) proteins associate to form the IKs cariac potassium current. Nature 1996, 384:78-80.
14. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT: Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996, 384:80-83.
15. Lee MP, Hu RJ, Johnson LA, Feinberg AP: Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 1997, 15:181-185.
16. + currents during development.
17. Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ: Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet 1997, 6:1943-1949. Electrophysiologic studies demonstrating the molecular basis for dominance and recessiveness of Romano-Ward and Jervell and Lange-Nielsen syndromes KVLQT1 mutations.
18. Demolombe S, Baro I, Pereon Y, Bliek J, Mohammad-Panah R, Pollard H, et al.: A dominant negative isoform of the long QT syndrome 1 gene product. J Biol Chem 1998, 273:6837-6843.
19. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, et al.: New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation 1998, 97:1264-1269.
20. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, et al.: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997, 96:2778-2781.
21. Saarinen K, Swan H, Kainulainen K, Toivonen L, Viitasalo M, Kontula K: Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat 1998, 11:158-165.
22. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, et al.: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation 1997, 95:565-567.
23. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, et al.: IsK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6:2179-2185.
24. Russell MW, Dick Mn, Collins FS, Brody LC: KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Mol Genet 1996, 5:1319-1324.
25. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, et al.: A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997, 15:186-189. First description of a mutation in Jervell and Lange-Nielsen syndrome, demonstrating the close etiologic relationship between Romano-Ward and Jervell and Lange-Nielsen syndromes.
26. Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT: Molecular basis of the Long-QT syndrome associated with deafness. N Engl J Med 1997, 336:1562-1567.
27. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J 1997, 16:5472-5479.
28. Shalaby FY, Levesque PC, Yang WP, Little WA, Conder ML, Jenkins-West T, Blanar MA: Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 1997, 96:1733-1736.
29. Gould TD, Pfeifer K: Imprinting of mouse Kvlqt1 is developmentally regulated. Hum Mol Genet 1998, 7:483-487.
30. Caspary T, Cleary MA, Baker CC, Guan XJ, Tilghman SM: Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol Cell Biol 1998, 18:3466-3474.
31. Trudeau MC, Warmke JW, Ganetzky B, Robertson GA: HERG, a human inward rectifier in the voltage-gated potassium channel family. Science 1995, 269:92-95.
32. Ks.
33. London B, Trudeau MC, Newton KP, Beyer AK, Copeland NG, Gilbert DJ, et al.: Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current. Circ Res 1997, 81:870-878.
34. Itoh T, Tanaka T, Nagai R, Kamiya T, Sawayama T, Nakayama T, et al.: Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet 1998, 102:435-439. Complete description of the HERG gene. Makes complete mutation analysis of this locus possible and provides a good estimate of the frequency of HERG mutations in long-QT syndrome.
35. Vesely MR, Duggal P, London B, Wattanasirichaigoon D, Beggs AH: Complete analysis of HERG gene for mutations in long QT syndrome. Circulation 1997, 96 (suppl):1-56.
36. 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.
37. Benson DW, MacRae CA, Vesely MR, Walsh EP, Seidman JG, Seidman CE, Satler CA: Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 1996, 93:1791-1795.
38. Dausse E, Berthet M, Denjoy I, Andre-Fouet X, Cruaud C, Bennaceur M, et al.: A mutation in HERG associated with notched T waves in long QT syndrome. J Mol Cell Cardiol 1996, 28:1609-1615.
39. Satler CA, Vesely MR, Duggal P, Ginsburg GS, Beggs AH: Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet 1996, 102:265-272.
40. Li X, Xu J, Li M: The human delta 1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression. J Biol Chem 1997, 272:705-708.
41. Sangumetti MC, Curran ME, Spector PS, Keating MT: Spectrum of HERG K+- channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci U S A 1996, 93:2208-2212.
42. Fozzard H, Hank, DA: Sructure and function of voltage-dependent sodium channels: Comparison of brain II and cardiac isoforms. Physiol Rew 1996, 76:887-926.
43. Behorin J, Goldmit M, MacCluer JW, Blangero J, Wang Q, Medlina A, Towbin JA, Kerem B: A new mutation in SCN5A associated with long QT syndrome. Am J Hum Genet 1997, 61 (suppl):A326.
44. Wattanasirichaigoon D, Vesely MR, Duggal P, Beggs AH: Mutations of SCN5A are infrequent in patients with long QT syndrome. Circulation 1997, 96 (suppl):1-56.
45. Kambouris NG, Nuss HB, Johns DC, Tomaselli GF, Marban E, Balser JR: Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. Circulation 1998, 97:640-644.
46. Makita N, Shirai N, Nagashima M, Matsuoka R, Yamada Y, Tohse N, Kitabatake A: A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett 1998, 423:5-9.
47. + channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A 1996, 93:13200-13205.
48. Mitrovic N, George AL Jr, Horn R: Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment. J Gen Physiol 1998, 111:451-462.
49. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al.: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392:293-296. Demonstration of the extreme clinical variability associated with different mutations of SCN5A. A nice example of the concept of one gene being involved in multiple diseases.
50. Schott J-J, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour J-B, et al.: Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995, 57:1114-1122.
51. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT: Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 1997, 17:338-340. First identification of KCNE1 mutations in Jervell and Lange-Nielsen syndrome and electrophysiologic studies demonstrating the molecular mechanism of their action.
52. Schulze-Bahr E, Haverkamp W, Wedekind H, Rubie C, Hordt M, Borggrefe M, Assmann G, Breithardt G, Funke H: Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet 1997, 100:573-576.
53. Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH: Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation 1998, 97:142-146. Good clinical description of patients with KCNE1 mutations and demonstration that the D76N mutation is codominant.
54. Wedekind H, Schulze-Bahr E, Haverkamp W, Hordt M: Gene with gene interaction influences the expressivity in chromosome 11-specific (KVLQT1) long-QT syndrome in a large German kindred. Circulation 1997, 96 (suppl):1-212.
55. Shimizu W, Kurita T, Matsuo K, Suyama K, Aihara N, Kamakura S, Towbin JA, Shimomura K: Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome. Circulation 1998, 97:1581-1588.
56. Compton SJ, Lux RL, Ramsey MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT, Mason JW: Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. Circulation 1996, 94:1018-1022.
57. Shimizu W, Antzelevitch C: Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome. Circulation 1997, 96:2038-2047.
58. Wang DW, Yazawa K, Makita N, George ALJ, Bennett PB: Pharmacological targetting of long QT mutant sodium channels. J Clin Invest 1997, 99:1714-1720.