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KBTBD13 is a novel cardiomyopathy gene. / de Winter, Josine M.; Bouman, Karlijn; Strom, Joshua et al.

In: Human mutation, Vol. 43, No. 12, 01.12.2022, p. 1860-1865.

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

Harvard

de Winter, JM, Bouman, K, Strom, J, Methawasin, M, Jongbloed, JDH, van der Roest, W, Wijngaarden, JV, Timmermans, J, Nijveldt, R, van den Heuvel, F, Kamsteeg, E-J, van Engelen, BG, Galli, R, Bogaards, SJP, Boon, RA, van der Pijl, RJ, Granzier, H, Koeleman, B, Amin, AS, van der Velden, J, van Tintelen, JP, van den Berg, MP, van Spaendonck-Zwarts, KY, Voermans, NC & Ottenheijm, CAC 2022, 'KBTBD13 is a novel cardiomyopathy gene', Human mutation, vol. 43, no. 12, pp. 1860-1865. https://doi.org/10.1002/humu.24499

APA

de Winter, J. M., Bouman, K., Strom, J., Methawasin, M., Jongbloed, J. D. H., van der Roest, W., Wijngaarden, J. V., Timmermans, J., Nijveldt, R., van den Heuvel, F., Kamsteeg, E-J., van Engelen, B. G., Galli, R., Bogaards, S. J. P., Boon, R. A., van der Pijl, R. J., Granzier, H., Koeleman, B., Amin, A. S., ... Ottenheijm, C. A. C. (2022). KBTBD13 is a novel cardiomyopathy gene. Human mutation, 43(12), 1860-1865. https://doi.org/10.1002/humu.24499

Vancouver

de Winter JM, Bouman K, Strom J, Methawasin M, Jongbloed JDH, van der Roest W et al. KBTBD13 is a novel cardiomyopathy gene. Human mutation. 2022 Dec 1;43(12):1860-1865. doi: 10.1002/humu.24499

Author

de Winter, Josine M. ; Bouman, Karlijn ; Strom, Joshua et al. / KBTBD13 is a novel cardiomyopathy gene. In: Human mutation. 2022 ; Vol. 43, No. 12. pp. 1860-1865.

BibTeX

@article{fe8a53441faf480eb49f60c4da806f91,
title = "KBTBD13 is a novel cardiomyopathy gene",
abstract = "KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac involvement in NEM6 is unknown. Here, we constructed pedigrees of three families with the KBTBD13 p.R408C variant. In 65 evaluated patients, 12% presented with left ventricle dilatation, 29% with left ventricular ejection fraction< 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Five patients received an implantable cardioverter defibrillator, three cases of sudden cardiac death were reported. Linkage analysis confirmed cosegregation of the KBTBD13 p.R408C variant with the cardiac phenotype. Mouse studies revealed that (1) mice harboring the Kbtbd13 p.R408C variant display mild diastolic dysfunction; (2) Kbtbd13-deficient mice have systolic dysfunction. Hence, (1) KBTBD13 is associated with cardiac dysfunction and cardiomyopathy; (2) KBTBD13 should be added to the cardiomyopathy gene panel; (3) NEM6 patients should be referred to the cardiologist.",
keywords = "KBTBD13, NEM6, cardiomyopathy, congenital myopathy",
author = "{de Winter}, {Josine M.} and Karlijn Bouman and Joshua Strom and Mei Methawasin and Jongbloed, {Jan D. H.} and {van der Roest}, Wilma and Wijngaarden, {Jan van} and Janneke Timmermans and Robin Nijveldt and {van den Heuvel}, Frederik and Erik-Jan Kamsteeg and {van Engelen}, {Baziel G.} and Ricardo Galli and Bogaards, {Sylvia J. P.} and Boon, {Reinier A.} and {van der Pijl}, {Robbert J.} and Henk Granzier and Bobby Koeleman and Amin, {Ahmad S.} and {van der Velden}, Jolanda and {van Tintelen}, {J. Peter} and {van den Berg}, {Maarten P.} and {van Spaendonck-Zwarts}, {Karin Y.} and Voermans, {Nicol C.} and Ottenheijm, {Coen A. C.}",
note = "Funding Information: This work was supported by the Dutch Foundation for Scientific Research (ZonMW‐VICI 91819613 to CACO); the Princess Beatrix Muscle Foundation (W.OR17‐08 to CACO, NV, and BvE); Amsterdam Cardiovascular Sciences (post‐doc grant to JMdW); Dutch Heart Foundation (Crazy Idea Grant to JMdW); Dutch Foundation for Scientific Research (ZonMW‐VENI 09150161910168 to JMdW); the Netherlands Cardiovascular Research Initiative, an initiative supported by the Dutch Heart Foundation (CardioVasculair Onderzoek Nederland (CVON); PREDICT2 2018‐30, eDETECT 2015‐12 and Double‐Dose 2020B005 to JPvT). Publisher Copyright: {\textcopyright} 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.",
year = "2022",
month = dec,
day = "1",
doi = "10.1002/humu.24499",
language = "English",
volume = "43",
pages = "1860--1865",
journal = "Human mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - KBTBD13 is a novel cardiomyopathy gene

AU - de Winter, Josine M.

AU - Bouman, Karlijn

AU - Strom, Joshua

AU - Methawasin, Mei

AU - Jongbloed, Jan D. H.

AU - van der Roest, Wilma

AU - Wijngaarden, Jan van

AU - Timmermans, Janneke

AU - Nijveldt, Robin

AU - van den Heuvel, Frederik

AU - Kamsteeg, Erik-Jan

AU - van Engelen, Baziel G.

AU - Galli, Ricardo

AU - Bogaards, Sylvia J. P.

AU - Boon, Reinier A.

AU - van der Pijl, Robbert J.

AU - Granzier, Henk

AU - Koeleman, Bobby

AU - Amin, Ahmad S.

AU - van der Velden, Jolanda

AU - van Tintelen, J. Peter

AU - van den Berg, Maarten P.

AU - van Spaendonck-Zwarts, Karin Y.

AU - Voermans, Nicol C.

AU - Ottenheijm, Coen A. C.

N1 - Funding Information: This work was supported by the Dutch Foundation for Scientific Research (ZonMW‐VICI 91819613 to CACO); the Princess Beatrix Muscle Foundation (W.OR17‐08 to CACO, NV, and BvE); Amsterdam Cardiovascular Sciences (post‐doc grant to JMdW); Dutch Heart Foundation (Crazy Idea Grant to JMdW); Dutch Foundation for Scientific Research (ZonMW‐VENI 09150161910168 to JMdW); the Netherlands Cardiovascular Research Initiative, an initiative supported by the Dutch Heart Foundation (CardioVasculair Onderzoek Nederland (CVON); PREDICT2 2018‐30, eDETECT 2015‐12 and Double‐Dose 2020B005 to JPvT). Publisher Copyright: © 2022 The Authors. Human Mutation published by Wiley Periodicals LLC.

PY - 2022/12/1

Y1 - 2022/12/1

N2 - KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac involvement in NEM6 is unknown. Here, we constructed pedigrees of three families with the KBTBD13 p.R408C variant. In 65 evaluated patients, 12% presented with left ventricle dilatation, 29% with left ventricular ejection fraction< 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Five patients received an implantable cardioverter defibrillator, three cases of sudden cardiac death were reported. Linkage analysis confirmed cosegregation of the KBTBD13 p.R408C variant with the cardiac phenotype. Mouse studies revealed that (1) mice harboring the Kbtbd13 p.R408C variant display mild diastolic dysfunction; (2) Kbtbd13-deficient mice have systolic dysfunction. Hence, (1) KBTBD13 is associated with cardiac dysfunction and cardiomyopathy; (2) KBTBD13 should be added to the cardiomyopathy gene panel; (3) NEM6 patients should be referred to the cardiologist.

AB - KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac involvement in NEM6 is unknown. Here, we constructed pedigrees of three families with the KBTBD13 p.R408C variant. In 65 evaluated patients, 12% presented with left ventricle dilatation, 29% with left ventricular ejection fraction< 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Five patients received an implantable cardioverter defibrillator, three cases of sudden cardiac death were reported. Linkage analysis confirmed cosegregation of the KBTBD13 p.R408C variant with the cardiac phenotype. Mouse studies revealed that (1) mice harboring the Kbtbd13 p.R408C variant display mild diastolic dysfunction; (2) Kbtbd13-deficient mice have systolic dysfunction. Hence, (1) KBTBD13 is associated with cardiac dysfunction and cardiomyopathy; (2) KBTBD13 should be added to the cardiomyopathy gene panel; (3) NEM6 patients should be referred to the cardiologist.

KW - KBTBD13

KW - NEM6

KW - cardiomyopathy

KW - congenital myopathy

UR - http://www.scopus.com/inward/record.url?scp=85142334342&partnerID=8YFLogxK

U2 - 10.1002/humu.24499

DO - 10.1002/humu.24499

M3 - Article

C2 - 36335629

VL - 43

SP - 1860

EP - 1865

JO - Human mutation

JF - Human mutation

SN - 1059-7794

IS - 12

ER -

ID: 29720746