Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy

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Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy. / Refsgaard, Lena; Olesen, Morten Salling; Møller, Daniel Vega; Christiansen, Michael; Haunsø, Stig; Svendsen, Jesper Hastrup; Christensen, Alex Hørby.

I: Applied and Translational Genomics, Bind 1, 01.12.2012, s. 44-46.

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

Harvard

Refsgaard, L, Olesen, MS, Møller, DV, Christiansen, M, Haunsø, S, Svendsen, JH & Christensen, AH 2012, 'Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy', Applied and Translational Genomics, bind 1, s. 44-46. https://doi.org/10.1016/j.atg.2012.06.001

APA

Refsgaard, L., Olesen, M. S., Møller, D. V., Christiansen, M., Haunsø, S., Svendsen, J. H., & Christensen, A. H. (2012). Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy. Applied and Translational Genomics, 1, 44-46. https://doi.org/10.1016/j.atg.2012.06.001

Vancouver

Refsgaard L, Olesen MS, Møller DV, Christiansen M, Haunsø S, Svendsen JH o.a. Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy. Applied and Translational Genomics. 2012 dec. 1;1:44-46. https://doi.org/10.1016/j.atg.2012.06.001

Author

Refsgaard, Lena ; Olesen, Morten Salling ; Møller, Daniel Vega ; Christiansen, Michael ; Haunsø, Stig ; Svendsen, Jesper Hastrup ; Christensen, Alex Hørby. / Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy. I: Applied and Translational Genomics. 2012 ; Bind 1. s. 44-46.

Bibtex

@article{3f56e7e0ee4d4ebb906f5a1dc6bc9d57,
title = "Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy",
abstract = "IIntroductionArrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease-causing mutation. In the present study we aimed at investigating the involvement of the genes SCN1B-SCN4B, FHL1, and LMNA in the pathogenesis of ARVC.MethodsSixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCN1B-4B, FHL1, and LMNA by direct sequencing and LightScanner melting curve analysis.ResultsA total of 28 sequence variants were identified: seven in SCN1B, three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified.ConclusionsIn our limited sized cohort the six studied candidate genes were not associated with ARVC.",
author = "Lena Refsgaard and Olesen, {Morten Salling} and M{\o}ller, {Daniel Vega} and Michael Christiansen and Stig Hauns{\o} and Svendsen, {Jesper Hastrup} and Christensen, {Alex H{\o}rby}",
year = "2012",
month = dec,
day = "1",
doi = "10.1016/j.atg.2012.06.001",
language = "English",
volume = "1",
pages = "44--46",
journal = "Applied and Translational Genomics",
issn = "2212-0661",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Mutation analysis of the candidate genes -, , and in patients with arrhythmogenic right ventricular cardiomyopathy

AU - Refsgaard, Lena

AU - Olesen, Morten Salling

AU - Møller, Daniel Vega

AU - Christiansen, Michael

AU - Haunsø, Stig

AU - Svendsen, Jesper Hastrup

AU - Christensen, Alex Hørby

PY - 2012/12/1

Y1 - 2012/12/1

N2 - IIntroductionArrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease-causing mutation. In the present study we aimed at investigating the involvement of the genes SCN1B-SCN4B, FHL1, and LMNA in the pathogenesis of ARVC.MethodsSixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCN1B-4B, FHL1, and LMNA by direct sequencing and LightScanner melting curve analysis.ResultsA total of 28 sequence variants were identified: seven in SCN1B, three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified.ConclusionsIn our limited sized cohort the six studied candidate genes were not associated with ARVC.

AB - IIntroductionArrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease-causing mutation. In the present study we aimed at investigating the involvement of the genes SCN1B-SCN4B, FHL1, and LMNA in the pathogenesis of ARVC.MethodsSixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCN1B-4B, FHL1, and LMNA by direct sequencing and LightScanner melting curve analysis.ResultsA total of 28 sequence variants were identified: seven in SCN1B, three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified.ConclusionsIn our limited sized cohort the six studied candidate genes were not associated with ARVC.

U2 - 10.1016/j.atg.2012.06.001

DO - 10.1016/j.atg.2012.06.001

M3 - Journal article

C2 - 27896052

VL - 1

SP - 44

EP - 46

JO - Applied and Translational Genomics

JF - Applied and Translational Genomics

SN - 2212-0661

ER -

ID: 196039661