IKs in Heart and Hearing, the Ear Can Do with Less than the Heart

Circulation: Cardiovascular Genetics

Volumn 6, Issue 2, 2013, Pages 141-143

  Bhuiyan, Zahurul A ^a   Wilde, Arthur A M ^b,c  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

Author keywords

Editorials; Genetics; Genotype; Long QT syndrome; Potassium channels

Indexed keywords

POTASSIUM CHANNEL; SLOWLY ACTIVATING DELAYED RECTIFIER POTASSIUM CHANNEL; UNCLASSIFIED DRUG; POTASSIUM CHANNEL KCNQ1;

ACTION POTENTIAL; CELL MEMBRANE; EAR; EDITORIAL; EXON SKIPPING; HEARING; HEART; HEART RATE; HETEROZYGOSITY; HOMEOSTASIS; HUMAN; INNER EAR; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REPOLARIZATION; FEMALE; GENETICS; MALE; NOTE; PERCEPTION DEAFNESS;

FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE;

EID: 84878104441     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000143     Document Type: Editorial

References (18)

1. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature. 1996;384:80-83.
2. Steel KP. Perspectives: biomedicine. The benefits of recycling. Science. 1999;285:1363-1364.
3. Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957;54:59-68.
4. 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.
5. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, et al. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997;17:267-268.
6. 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.
7. Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, et al. Homozygous deletion in KVLQT1 associated with Jervell and Lange- Nielsen syndrome. Circulation. 1999;99:1344-1347.
8. 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.
9. Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, et al. A recessive variant of the Romano-Ward long-QT syndrome? Circulation. 1998;97:2420-2425.
10. Larsen LA, Fosdal I, Andersen PS, Kanters JK, Vuust J, Wettrell G, et al. Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. Eur J Hum Genet. 1999;7:724-728.
11. Novotny T, Kadlecova J, Janousek J, Gaillyova R, Bittnerova A, Florianova A, et al. The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. Pacing Clin Electrophysiol. 2006;29:1013-1015.
12. Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange- Nielsen syndrome. Cardiovasc Res. 2001;51:670-680.
13. Winbo A, Stattin EL, Diamant UB, Persson J, Jensen SM, Rydberg A. Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. Europace. 2012;14:1799-1806.
14. Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AA, et al. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol. 2008;98:319-327.
15. Zehelein J, Kathoefer S, Khalil M, Alter M, Thomas D, Brockmeier K, et al. Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange- Nielsen syndrome. J Biol Chem. 2006;281:35397-35403.
16. Giudicessi JR, Ackerman MJ. Prevalence and potential genetic determinanats of sensorineural deafness in KCNQ1 homozygosisty and compound heterozygosity. Circ Cardiovasc Genet. 2013;6:193-200.
17. Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, et al. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation. 2009;120:1657-1663.
18. Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, et al. Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J. 2012;33:714-723.