Molecular genetics of long QT syndrome

Bokil, Nilesh J., Baisden, John M., Radford,Dorothy J. and Summers,Kim M. (2010) Molecular genetics of long QT syndrome. Molecular Genetics and Metabolism, 101 1: 1-8. doi:10.1016/j.ymgme.2010.05.011

Author Bokil, Nilesh J.
Baisden, John M.
Radford,Dorothy J.
Summers,Kim M.
Title Molecular genetics of long QT syndrome
Journal name Molecular Genetics and Metabolism   Check publisher's open access policy
ISSN 1096-7192
Publication date 2010-09
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1016/j.ymgme.2010.05.011
Volume 101
Issue 1
Start page 1
End page 8
Total pages 8
Place of publication Maryland Heights, MO, United States
Publisher Academic Press
Collection year 2011
Language eng
Formatted abstract
Long QT syndrome (LQTS) is a cardiac disorder associated with sudden death especially in young, seemingly healthy individuals. It is characterised by abnormalities of the heart beat detected as lengthening of the QT interval during cardiac repolarisation. The incidence of LQTS is given as 1 in 2000 but this may be an underestimation as many cases go undiagnosed, due to the rarity of the condition and the wide spectrum of symptoms. Presently 12 genes associated with LQTS have been identified with differing signs and symptoms, depending on the locus involved. The majority of cases have mutations in the KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3) genes. Genetic testing is increasingly used when a clearly affected proband has been identified, to determine the nature of the mutation in that family. Unfortunately tests on probands may be uninformative, especially if the defect does not lie in the set of genes which are routinely tested. Novel mutations in these known LQTS genes and additional candidate genes are still being discovered. The functional implications of these novel mutations need to be assessed before they can be accepted as being responsible for LQTS. Known epigenetic modification affecting KCNQ1 gene expression may also be involved in phenotypic variability of LQTS. Genetic diagnosis of LQTS is thus challenging. However, where a disease associated mutation is identified, molecular diagnosis can be important in guiding therapy, in family testing and in determining the cause of sudden cardiac death. New developments in technology and understanding offer increasing hope to families with this condition.
Copyright © 2010 Elsevier Inc. All rights reserved.
Keyword Long QT syndrome
Romano-Ward syndrome
Brugada syndrome
Jervell and Lange-Neilson syndrome
KCNQ1 potassium channel
Cardiac ion channels
Epigenetic modification
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published under Minireviews

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2011 Collection
School of Chemistry and Molecular Biosciences
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Citation counts: TR Web of Science Citation Count  Cited 46 times in Thomson Reuters Web of Science Article | Citations
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Created: Sun, 12 Sep 2010, 00:02:00 EST