{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:59:54Z","timestamp":1791140394670,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>FLNC<\/jats:italic>\n                    encoding filamin C have been firstly reported to cause myopathies, and were recently linked to isolated cardiac phenotypes. Our aim was to estimate the prevalence of\n                    <jats:italic>FLNC<\/jats:italic>\n                    pathogenic variants in subtypes of cardiomyopathies and to study the relations between phenotype and genotype. DNAs from a cohort of 1150 unrelated index\u2010patients with isolated cardiomyopathy (700 hypertrophic, 300 dilated, 50 restrictive cardiomyopathies, and 100 left ventricle non\u2010compactions) have been sequenced on a custom panel of 51 cardiomyopathy disease\u2010causing genes. An\n                    <jats:italic>FLNC<\/jats:italic>\n                    pathogenic variant was identified in 28 patients corresponding to a prevalence ranging from 1% to 8% depending on the cardiomyopathy subtype. Truncating variants were always identified in patients with dilated cardiomyopathy, while missense or in\u2010frame indel variants were found in other phenotypes. A personal or family history of sudden cardiac death (SCD) was significantly higher in patients with truncating variants than in patients carrying missense variants (\n                    <jats:italic>P<\/jats:italic>\n                    =\u2009.01). This work reported the first observation of a left ventricular non\u2010compaction associated with a unique probably causal variant in\n                    <jats:italic>FLNC<\/jats:italic>\n                    which highlights the role of\n                    <jats:italic>FLNC<\/jats:italic>\n                    in cardiomyopathies. A correlation between the nature of the variant and the cardiomyopathy subtype was observed as well as with SCD risk.\n                  <\/jats:p>","DOI":"10.1111\/cge.13594","type":"journal-article","created":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T07:24:55Z","timestamp":1561620295000},"page":"317-329","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":107,"title":["<i>FLNC<\/i>\n                    pathogenic variants in patients with cardiomyopathies: Prevalence and genotype\u2010phenotype correlations"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7891-3385","authenticated-orcid":false,"given":"Flavie","family":"Ader","sequence":"first","affiliation":[{"name":"APHP, UF Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, Service de Biochimie M\u00e9tabolique H\u00f4pitaux Universitaires de la Piti\u00e9\u2010 Salp\u00eatri\u00e8re\u2010 Charles Foix  Paris France"},{"name":"Sorbonne Universit\u00e9 UPMC Univ., INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition  Paris France"},{"name":"Universit\u00e9 Paris Descartes, Facult\u00e9 de Pharmacie  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"De Groote","sequence":"additional","affiliation":[{"name":"P\u00f4le Cardio\u2010Vasculaire et Pulmonaire CHRU de Lille \u2010 H\u00f4pital Albert Calmette  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"R\u00e9ant","sequence":"additional","affiliation":[{"name":"Service de Cardiologie CHU de Bordeaux, Universit\u00e9 de Bordeaux  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Rooryck\u2010Thambo","sequence":"additional","affiliation":[{"name":"CHU Bordeaux Service de G\u00e9n\u00e9tique M\u00e9dicale  Bordeaux 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Villard","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 UPMC Univ., INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9 UPMC Univ., INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition  Paris France"},{"name":"APHP, Centre de r\u00e9f\u00e9rence pour les maladies cardiaques h\u00e9r\u00e9ditaires H\u00f4pitaux Universitaires Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2390-3005","authenticated-orcid":false,"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"APHP, UF Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique 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