{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:40:09Z","timestamp":1790185209085,"version":"4.1.0"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:sec>\n            <jats:title>BACKGROUND:<\/jats:title>\n            <jats:p>\n              Few clinical data are available on\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              mutation carriers, and the gene\u2019s involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              and to describe the phenotype and prognosis of patients carrying the variants.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>METHODS:<\/jats:title>\n            <jats:p>\n              DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death\/sudden infant death syndrome\/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              gene were selected.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS:<\/jats:title>\n            <jats:p>\n              Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              only, including 2 with double variants and 29 with a single variant. Of the 29 unrelated probands with a single variant (16 males; median age at diagnosis, 32.0 [26.0\u201349.0] years), 21 presented with dilated cardiomyopathy (prevalence, 0.33%), and 3 presented with hypertrophic cardiomyopathy (prevalence, 0.14%). Three patients had idiopathic ventricular fibrillation, and there were 2 cases of sudden infant death syndrome (prevalence, 0.46%). For patients with dilated cardiomyopathy, the median left ventricle ejection fraction was 37.5% (26.25\u201350.0) at diagnosis and improved with treatment in 13 (61.9%). Over a median follow-up period of 6.0 years, we recorded 3 severe arrhythmic events and 2 severe hemodynamic events.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSIONS:<\/jats:title>\n            <jats:p>\n              Putative pathogenic\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              variants were mainly associated with dilated cardiomyopathy; in these individuals, the prognosis appeared to be relatively good. However, severe and early onset phenotypes were also observed\u2014especially in patients with double\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              variants. We also detected\n              <jats:italic toggle=\"yes\">NEXN<\/jats:italic>\n              variants in patients with hypertrophic cardiomyopathy and sudden infant death syndrome\/idiopathic ventricular fibrillation, although a causal link could not be established.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgen.123.004285","type":"journal-article","created":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T10:00:48Z","timestamp":1701943248000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis"],"prefix":"10.1161","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2392-3759","authenticated-orcid":true,"given":"Alexis","family":"Hermida","sequence":"first","affiliation":[{"name":"Cardiology, Arrhythmia, and Cardiac Stimulation Service (A.H.), Amiens-Picardie University Hospital."},{"name":"EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens (A.H., G.J.)."},{"name":"Institute of Cardiology and ICAN Institute for Cardiometabolism and Nutrition (A.H., M. Laredo, P. Charron, E.G.)."},{"name":"Department of Genetics, Department of Cardiology, and Referral center for hereditary cardiac diseases, APHP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital (A.H., P. Charron, E.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7891-3385","authenticated-orcid":true,"given":"Flavie","family":"Ader","sequence":"additional","affiliation":[{"name":"Unit\u00e9 P\u00e9dagogique de Biochimie, D\u00e9partement des Sciences Biologiques et M\u00e9dicales, UFR de Pharmacie-Facult\u00e9 de Sant\u00e9, Universit\u00e9 Paris Cit\u00e9 (F.A.)."},{"name":"Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, DMU Biogem, Service de Biochimie M\u00e9tabolique, AP-HP-Sorbonne Universit\u00e9, Piti\u00e9-Salp\u00eatri\u00e8re -Charles Foix (F.A., P.R.)."},{"name":"Sorbonne Universit\u00e9, INSERM 1166, Paris (F.A., M. Laredo, P.R., P. Charron, E.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-0694","authenticated-orcid":true,"given":"Gilles","family":"Millat","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire, Hospices Civils de Lyon (G.M., A.J.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5704-6830","authenticated-orcid":true,"given":"Guillaume","family":"Jedraszak","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory (G.J.), Amiens-Picardie University Hospital."},{"name":"EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens (A.H., G.J.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4800-1841","authenticated-orcid":true,"given":"Phillipe","family":"Maury","sequence":"additional","affiliation":[{"name":"Service de Cardiologie (P.M.), CHU Toulouse."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0489-144X","authenticated-orcid":true,"given":"Romain","family":"Cador","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, H\u00f4pital Saint Joseph, Paris (R.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre-Antoine","family":"Catalan","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, CHU Clermont Ferrand (P.-A.C., R.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4631-6196","authenticated-orcid":true,"given":"Ga\u00ebl","family":"Clerici","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Centre hospitalier universitaire, Saint Pierre, La R\u00e9union (G.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5238-7791","authenticated-orcid":true,"given":"Nicolas","family":"Combes","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, Clinique Pasteur, Toulouse (N.C.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6211-0147","authenticated-orcid":true,"given":"Pascal","family":"De Groote","sequence":"additional","affiliation":[{"name":"France CHU Lille, Service de Cardiologie &amp; Inserm U1167, Institut Pasteur de Lille (P.D.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Dupin-Deguine","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique (D.D.-D.), CHU Toulouse."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3183-7084","authenticated-orcid":true,"given":"Romain","family":"Eschalier","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, CHU Clermont Ferrand (P.-A.C., R.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-444X","authenticated-orcid":true,"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique, CHU Dijon (L.F.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Garcia","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mort Inattendue du Nourrisson, H\u00f4pital de la Conception, APHM, Marseille (P.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Guillon","sequence":"additional","affiliation":[{"name":"Service de Cardiologie, CHU Besan\u00e7on (B.G.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3571-003X","authenticated-orcid":true,"given":"Alexandre","family":"Janin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire, Hospices Civils de Lyon (G.M., A.J.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7001-9644","authenticated-orcid":true,"given":"Beatrice","family":"Kugener","sequence":"additional","affiliation":[{"name":"Urgences P\u00e9diatriques (B.K.), H\u00f4pital Louis Pradel, HCL, Lyon."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marylin","family":"Lackmy","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique Clinique, CHU de Guadeloupe, Pointe \u00e0 Pitre (M. Lackmy)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Laredo","sequence":"additional","affiliation":[{"name":"Institute of Cardiology and ICAN Institute for Cardiometabolism and Nutrition (A.H., M. Laredo, P. Charron, E.G.)."},{"name":"Sorbonne Universit\u00e9, INSERM 1166, Paris (F.A., M. Laredo, P.R., P. 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