FLNC missense variants in familial noncompaction cardiomyopathy

The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the...

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Main Authors:	Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. van der Zwaag
Format:	Article
Language:	English
Published:	MDPI AG 2019-10-01
Series:	Cardiogenetics
Online Access:	https://pagepressjournals.com/index.php/cardiogen/article/view/8181

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spelling	doaj-a6e065bad67c4aa9b96b6f91545fe6412021-01-02T06:29:25ZengMDPI AGCardiogenetics2035-82532035-81482019-10-019110.4081/cardiogenetics.2019.8181FLNC missense variants in familial noncompaction cardiomyopathyJaap I. van Waning0Yvonne M. Hoedemaekers1Wouter P. te Rijdt2Arne I. Jpma3Daphne Heijsman4Kadir Caliskan5Elke S. Hoendermis6Tineke P. Willems7Arthur van den Wijngaard8Albert Suurmeijer9Marjon A. van Slegtenhorst10Jan D.H. Jongbloed11Danielle F. Majoor-Krakauer12Paul A. van der Zwaag13Department of Clinical Genetics, Erasmus Medical Center, RotterdamDepartment of Genetics, University of Groningen, University Medical Center Groningen, GroningenDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen; Department of Pathology, University of Groningen, University Medical Center Groningen, GroningenDepartment of Pathology, Erasmus Medical Center, RotterdamDepartment of Pathology, Erasmus Medical Center, RotterdamDepartment of Cardiology, Erasmus Medical Center, RotterdamDepartment of Cardiology, University of Groningen, University Medical Center Groningen, GroningenDepartment of Radiology, University of Groningen, University Medical Center Groningen, GroningenDepartment of Clinical Genetics, Maastricht University Medical Center, MaastrichtDepartment of Pathology, University of Groningen, University Medical Center Groningen, GroningenDepartment of Clinical Genetics, Erasmus Medical Center, RotterdamDepartment of Genetics, University of Groningen, University Medical Center Groningen, GroningenDepartment of Clinical Genetics, Erasmus Medical Center, RotterdamDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities. https://pagepressjournals.com/index.php/cardiogen/article/view/8181
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jaap I. van Waning Yvonne M. Hoedemaekers Wouter P. te Rijdt Arne I. Jpma Daphne Heijsman Kadir Caliskan Elke S. Hoendermis Tineke P. Willems Arthur van den Wijngaard Albert Suurmeijer Marjon A. van Slegtenhorst Jan D.H. Jongbloed Danielle F. Majoor-Krakauer Paul A. van der Zwaag
spellingShingle	Jaap I. van Waning Yvonne M. Hoedemaekers Wouter P. te Rijdt Arne I. Jpma Daphne Heijsman Kadir Caliskan Elke S. Hoendermis Tineke P. Willems Arthur van den Wijngaard Albert Suurmeijer Marjon A. van Slegtenhorst Jan D.H. Jongbloed Danielle F. Majoor-Krakauer Paul A. van der Zwaag FLNC missense variants in familial noncompaction cardiomyopathy Cardiogenetics
author_facet	Jaap I. van Waning Yvonne M. Hoedemaekers Wouter P. te Rijdt Arne I. Jpma Daphne Heijsman Kadir Caliskan Elke S. Hoendermis Tineke P. Willems Arthur van den Wijngaard Albert Suurmeijer Marjon A. van Slegtenhorst Jan D.H. Jongbloed Danielle F. Majoor-Krakauer Paul A. van der Zwaag
author_sort	Jaap I. van Waning
title	FLNC missense variants in familial noncompaction cardiomyopathy
title_short	FLNC missense variants in familial noncompaction cardiomyopathy
title_full	FLNC missense variants in familial noncompaction cardiomyopathy
title_fullStr	FLNC missense variants in familial noncompaction cardiomyopathy
title_full_unstemmed	FLNC missense variants in familial noncompaction cardiomyopathy
title_sort	flnc missense variants in familial noncompaction cardiomyopathy
publisher	MDPI AG
series	Cardiogenetics
issn	2035-8253 2035-8148
publishDate	2019-10-01
description	The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLNC) have been linked to HCM and DCM. We expand the spectrum of FLNC related cardiomyopathies by presenting two families with likely pathogenic FLNC variants showing familial segregation of NCCM and concurrent coarctation of the aorta and/or mitral valve abnormalities.
url	https://pagepressjournals.com/index.php/cardiogen/article/view/8181
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FLNC missense variants in familial noncompaction cardiomyopathy

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