J. Waning, Y. Hoedemaekers, W. T. Rijdt, Arne I. Jpma, D. Heijsman, K. Caliskan, E. Hoendermis, T. Willems, A. Wijngaard, A. Suurmeijer, M. V. Slegtenhorst, J. Jongbloed, D. Majoor-Krakauer, P. A. Zwaag
{"title":"家族性非压实性心肌病的FLNC错义变异","authors":"J. Waning, Y. Hoedemaekers, W. T. Rijdt, Arne I. Jpma, D. Heijsman, K. Caliskan, E. Hoendermis, T. Willems, A. Wijngaard, A. Suurmeijer, M. V. Slegtenhorst, J. Jongbloed, D. Majoor-Krakauer, P. A. Zwaag","doi":"10.4081/cardiogenetics.2019.8181","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":41330,"journal":{"name":"Cardiogenetics","volume":"1 1","pages":""},"PeriodicalIF":0.5000,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/cardiogenetics.2019.8181","citationCount":"2","resultStr":"{\"title\":\"FLNC missense variants in familial noncompaction cardiomyopathy\",\"authors\":\"J. Waning, Y. Hoedemaekers, W. T. Rijdt, Arne I. Jpma, D. Heijsman, K. Caliskan, E. Hoendermis, T. Willems, A. Wijngaard, A. Suurmeijer, M. V. Slegtenhorst, J. Jongbloed, D. Majoor-Krakauer, P. A. Zwaag\",\"doi\":\"10.4081/cardiogenetics.2019.8181\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":41330,\"journal\":{\"name\":\"Cardiogenetics\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2019-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.4081/cardiogenetics.2019.8181\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cardiogenetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4081/cardiogenetics.2019.8181\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cardiogenetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/cardiogenetics.2019.8181","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
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 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.
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