High prevalence of genetic variants previously associated with LQT syndrome in new exome data

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 905-908

  Refsgaard, Lena ^a,b   Holst, Anders G ^a,b   Sadjadieh, Golnaz ^a,b   Haunsø, Stig ^a,b,c   Nielsen, Jonas B ^a,b   Olesen, Morten S ^a,b  

^a DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^b Mental Health Services CPH   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

arrhythmia; exome; false positive; LQTS; next generation sequencing; NGS

Indexed keywords

ARTICLE; CAV3 GENE; CONTROLLED STUDY; EXOME; FALSE POSITIVE RESULT; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; KCNH2 GENE; LONG QT SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SCN5A GENE;

EXOME; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; LONG QT SYNDROME; MUTATION, MISSENSE; PREVALENCE;

EID: 84864144507     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.23     Document Type: Article

References (8)

1. Hedley PL, Jørgensen P, Schlamowitz S et al: The genetic basis of long QTand short QT syndromes: a mutation update. Hum Mutat 2009; 30: 1486-1511.
2. Yang Y, Yang Y, Liang B et al: Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet 2010; 86: 872-880.
3. Tester DJ, Valdivia C, Harris-Kerr C et al: Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm 2010; 7: 912-919.
4. Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA (url: http://snp.gs.washington.edu/EVS/) (Accessed 2011 Dec 05).
5. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (url: http://www.hgmd.org/) (Accessed 2011 Dec 05).
6. Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
7. Olesen MS, Jespersen T, Nielsen JB et al: Mutations in sodium channel b-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc Res 2011; 89: 786-793.
8. Olesen MS, Jensen NF, Holst AG et al: A novel nonsense variant in Nav1.5 cofactor MOG1 eliminates its sodium current increasing effect and may increase the risk of arrhythmias. Can J Cardiol 2011; 27: 523e17-523e23.