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

Lena Refsgaard; Morten Salling Olesen; Daniel Vega Møller; Michael Christiansen; Stig Haunsø; Jesper Hastrup Svendsen; Alex Hørby Christensen

doi:10.1016/j.atg.2012.06.001

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

Lena Refsgaard, Morten Salling Olesen, Daniel Vega Møller, Michael Christiansen, Stig Haunsø, Jesper Hastrup Svendsen, Alex Hørby Christensen

Abstract

INTRODUCTION: Arrhythmogenic 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.

METHODS: Sixty-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.

RESULTS: A 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.

CONCLUSIONS: In our limited sized cohort the six studied candidate genes were not associated with ARVC.

Originalsprog	Engelsk
Tidsskrift	Applied and Translational Genomics
Vol/bind	1
Sider (fra-til)	44-46
Antal sider	3
ISSN	2212-0661
DOI	https://doi.org/10.1016/j.atg.2012.06.001
Status	Udgivet - 1 dec. 2012

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10.1016/j.atg.2012.06.001Licens: CC BY-NC-ND

pmc5121199?pdf=renderForlagets udgivne version, 210 KBLicens: CC BY-NC-ND

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

abstract = "INTRODUCTION: Arrhythmogenic 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.METHODS: Sixty-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.RESULTS: A 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.CONCLUSIONS: In 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}",

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doi = "10.1016/j.atg.2012.06.001",

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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 - INTRODUCTION: Arrhythmogenic 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.METHODS: Sixty-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.RESULTS: A 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.CONCLUSIONS: In our limited sized cohort the six studied candidate genes were not associated with ARVC.

AB - INTRODUCTION: Arrhythmogenic 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.METHODS: Sixty-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.RESULTS: A 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.CONCLUSIONS: In 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

SN - 2212-0661

VL - 1

SP - 44

EP - 46

JO - Applied and Translational Genomics

JF - Applied and Translational Genomics

ER -

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

Abstract

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