Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort

Freyja H. M. van Lint; Brittney Murray; Crystal Tichnell; Rob Zwart; Nuria Amat; Ronald H. Lekanne Deprez; Sven Dittmann; Birgit Stallmeyer; Hugh Calkins; Jasper J. van der Smagt; Arthur van den Wijngaard; Dennis Dooijes; Paul A. van der Zwaag; Eric Schulze-Bahr; Daniel P. Judge; Jan D. H. Jongbloed; J. Peter van Tintelen; Cynthia A. James

doi:10.1161/CIRCGEN.119.002467

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort

Freyja H. M. van Lint^*, Brittney Murray, Crystal Tichnell, Rob Zwart, Nuria Amat, Ronald H. Lekanne Deprez, Sven Dittmann, Birgit Stallmeyer, Hugh Calkins, Jasper J. van der Smagt, Arthur van den Wijngaard, Dennis Dooijes, Paul A. van der Zwaag, Eric Schulze-Bahr, Daniel P. Judge, Jan D. H. Jongbloed, J. Peter van Tintelen, Cynthia A. James

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	002467
Number of pages	8
Journal	Circulation: Genomic and Precision Medicine
Volume	12
Issue number	8
DOIs	https://doi.org/10.1161/CIRCGEN.119.002467
Publication status	Published - Aug 2019

Keywords

arrhythmogenic right ventricular cardiomyopathy
desmosome
genetics
genotype
haplotypes
DESMOCOLLIN-2 MUTATIONS
CLINICAL PRESENTATION
DYSPLASIA/CARDIOMYOPATHY
PLAKOPHILIN-2
FAMILIES
GENETICS
PENETRANCE
RECURRENT
FEATURES
AGE

Access to Document

10.1161/CIRCGEN.119.002467

Cite this

van Lint, F. H. M., Murray, B., Tichnell, C., Zwart, R., Amat, N., Deprez, R. H. L., Dittmann, S., Stallmeyer, B., Calkins, H., van der Smagt, J. J., van den Wijngaard, A., Dooijes, D., van der Zwaag, P. A., Schulze-Bahr, E., Judge, D. P., Jongbloed, J. D. H., van Tintelen, J. P., & James, C. A. (2019). Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort. Circulation: Genomic and Precision Medicine, 12(8), [002467]. https://doi.org/10.1161/CIRCGEN.119.002467

van Lint, Freyja H. M. ; Murray, Brittney ; Tichnell, Crystal ; Zwart, Rob ; Amat, Nuria ; Deprez, Ronald H. Lekanne ; Dittmann, Sven ; Stallmeyer, Birgit ; Calkins, Hugh ; van der Smagt, Jasper J. ; van den Wijngaard, Arthur ; Dooijes, Dennis ; van der Zwaag, Paul A. ; Schulze-Bahr, Eric ; Judge, Daniel P. ; Jongbloed, Jan D. H. ; van Tintelen, J. Peter ; James, Cynthia A. / Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo : Segregation and Haplotype Analysis of a Multinational Cohort. In: Circulation: Genomic and Precision Medicine. 2019 ; Vol. 12, No. 8.

@article{19a689123c07403e90f02e9883a35b5c,

title = "Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort",

keywords = "arrhythmogenic right ventricular cardiomyopathy, desmosome, genetics, genotype, haplotypes, DESMOCOLLIN-2 MUTATIONS, CLINICAL PRESENTATION, DYSPLASIA/CARDIOMYOPATHY, PLAKOPHILIN-2, FAMILIES, GENETICS, PENETRANCE, RECURRENT, FEATURES, AGE",

author = "{van Lint}, {Freyja H. M.} and Brittney Murray and Crystal Tichnell and Rob Zwart and Nuria Amat and Deprez, {Ronald H. Lekanne} and Sven Dittmann and Birgit Stallmeyer and Hugh Calkins and {van der Smagt}, {Jasper J.} and {van den Wijngaard}, Arthur and Dennis Dooijes and {van der Zwaag}, {Paul A.} and Eric Schulze-Bahr and Judge, {Daniel P.} and Jongbloed, {Jan D. H.} and {van Tintelen}, {J. Peter} and James, {Cynthia A.}",

year = "2019",

month = aug,

doi = "10.1161/CIRCGEN.119.002467",

language = "English",

volume = "12",

journal = "Circulation: Genomic and Precision Medicine",

issn = "2574-8300",

publisher = "Lippincott Williams and Wilkins Ltd.",

number = "8",

}

van Lint, FHM, Murray, B, Tichnell, C, Zwart, R, Amat, N, Deprez, RHL, Dittmann, S, Stallmeyer, B, Calkins, H, van der Smagt, JJ, van den Wijngaard, A, Dooijes, D, van der Zwaag, PA, Schulze-Bahr, E, Judge, DP, Jongbloed, JDH, van Tintelen, JP & James, CA 2019, 'Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort', Circulation: Genomic and Precision Medicine, vol. 12, no. 8, 002467. https://doi.org/10.1161/CIRCGEN.119.002467

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo : Segregation and Haplotype Analysis of a Multinational Cohort. / van Lint, Freyja H. M.; Murray, Brittney; Tichnell, Crystal; Zwart, Rob; Amat, Nuria; Deprez, Ronald H. Lekanne; Dittmann, Sven; Stallmeyer, Birgit; Calkins, Hugh; van der Smagt, Jasper J.; van den Wijngaard, Arthur; Dooijes, Dennis; van der Zwaag, Paul A.; Schulze-Bahr, Eric; Judge, Daniel P.; Jongbloed, Jan D. H.; van Tintelen, J. Peter; James, Cynthia A.

In: Circulation: Genomic and Precision Medicine, Vol. 12, No. 8, 002467, 08.2019.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo

T2 - Segregation and Haplotype Analysis of a Multinational Cohort

AU - van Lint, Freyja H. M.

AU - Murray, Brittney

AU - Tichnell, Crystal

AU - Zwart, Rob

AU - Amat, Nuria

AU - Deprez, Ronald H. Lekanne

AU - Dittmann, Sven

AU - Stallmeyer, Birgit

AU - Calkins, Hugh

AU - van der Smagt, Jasper J.

AU - van den Wijngaard, Arthur

AU - Dooijes, Dennis

AU - van der Zwaag, Paul A.

AU - Schulze-Bahr, Eric

AU - Judge, Daniel P.

AU - Jongbloed, Jan D. H.

AU - van Tintelen, J. Peter

AU - James, Cynthia A.

PY - 2019/8

Y1 - 2019/8

KW - arrhythmogenic right ventricular cardiomyopathy

KW - desmosome

KW - genetics

KW - genotype

KW - haplotypes

KW - DESMOCOLLIN-2 MUTATIONS

KW - CLINICAL PRESENTATION

KW - DYSPLASIA/CARDIOMYOPATHY

KW - PLAKOPHILIN-2

KW - FAMILIES

KW - GENETICS

KW - PENETRANCE

KW - RECURRENT

KW - FEATURES

KW - AGE

U2 - 10.1161/CIRCGEN.119.002467

DO - 10.1161/CIRCGEN.119.002467

M3 - Article

C2 - 31386562

VL - 12

JO - Circulation: Genomic and Precision Medicine

JF - Circulation: Genomic and Precision Medicine

SN - 2574-8300

IS - 8

M1 - 002467

ER -