402
Views
5
CrossRef citations to date
0
Altmetric
Research Article

Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome

, , , , , , , , & show all
Pages 522-528 | Received 22 Aug 2016, Accepted 30 Oct 2016, Published online: 05 Dec 2016

References

  • Niaz A, Rizvi SF, Khurram D. Prevalence of long QT syndrome and other cardiac defects in deaf-mute children. J Ayub Med Coll Abbottabad 2011;23:5–8.
  • Schwartz PJ, Moss AJ, Vincent GM, et al. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88:782–4.
  • Goldenberg I, Zareba W, Moss AJ. Long QT syndrome. Curr Probl Cardiol 2008;33:629–94.
  • Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005;294:2975–80.
  • Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007;115:2481–9.
  • Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ. Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation 2004;110:2119–24.
  • Yang T, Chung SK, Zhang W, Mullins JG, McCulley CH, Crawford J, et al. Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol 2009;2:417–26.
  • Zhang S, Yin K, Ren X, Wang P, Zhang S, Cheng L, et al. Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. BMC Med Genet 2008;9:24.
  • Burgess DE, Bartos DC, Reloj AR, Campbell KS, Johnson JN, Tester DJ, et al. High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation. Biochemistry 2012;51:9076–85.
  • Ghouse J, Have CT, Weeke P, Bille Nielsen J, Ahlberg G, Balslev-Harder M, et al. Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J 2015;36:2523–9.
  • Winbo A, Sandstrom O, Palmqvist R, Rydberg A. Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. Cardiol Young 2013;23:325–34.
  • Bostan O, Temel SG, Cangul H, Archer CN, Cil E. Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family. Pediatr Cardiol 2013;34:2063–7.
  • Goldman AM, Glasscock E, Yoo J, Chen TT, Klassen TL, Noebels JL. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med 2009;1:2ra6.
  • Tekin D, Tutar E, Ozturkmen Akay H, Blanton S, Foster J, 2nd., Tekin M. Comprehensive genetic testing can save lives in hereditary hearing loss. Clin Genet 2015;87:190–1.
  • Gao Y, Li C, Liu W, Wu R, Qiu X, Liang R, et al. Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. J Cardiovasc Dis Res 2012;3:67–75.
  • Olley PM, Fowler RS. The surdo-cardiac syndrome and therapeutic observations. Br Heart J 1970;32:467–71.
  • Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006;113:783–90.
  • Behera M. Jervell and Lange-Nielsen syndrome in a middle aged patient. Postgrad Med J 1987;63:395–6.
  • Bhuiyan ZA, Wilde AAMI. IKs in heart and hearing, the ear can do with less than the heart. Circ Cardiovasc Genet 2013;6:141–3.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.