{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:58:44Z","timestamp":1771671524331,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"Abstract<\/jats:title>Pathogenic heterozygous NEXN variants are associated with progressive dilated cardiomyopathy (DCM) usually presenting around 50\u2009years of age. We describe an asymptomatic boy who had transient DCM at 3\u00a0months of age, that resolved by 4\u00a0months. Presently, at 11\u2009years of age, he has normal cardiac function with signs of mild DCM on cardiac MRI. Genetic diagnostics revealed a paternally derived, heterozygous 1949_1951del class 4 variant in NEXN<\/jats:italic>. His father had mild DCM with mildly reduced systolic function. The second patient presented with fetal hydrops at 33\u2009weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2\u2009weeks when therapy was withdrawn. Homozygous c.1174C\u2009>\u2009T,p.(R392*) class 4 variants in the NEXN<\/jats:italic> gene were found via WES. Microscopic investigation showed endomyocardial fibroelastosis. Her parents, both heterozygous carriers, had normal cardiac function and the family history was normal. These patients show a new clinical spectrum of pediatric cardiac disease seen in heterozygous and homozygous NEXN<\/jats:italic> variants, ranging from mild, transient DCM to a severe, fatal neonatal DCM. These patients support the inclusion of the NEXN<\/jats:italic> gene in the investigation of pediatric patients with DCM, even in cases with transient DCM.<\/jats:p>","DOI":"10.1002\/ajmg.a.62231","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T15:18:50Z","timestamp":1620227930000},"page":"2464-2470","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Childhood onset nexilin dilated cardiomyopathy: A\u00a0heterozygous and a homozygous case"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2315-9925","authenticated-orcid":false,"given":"Luc","family":"Bruyndonckx","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology Amsterdam University Medical Centers Amsterdam Netherlands"},{"name":"Translational Research in Immunology and Inflammation University of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith L.","family":"Vogelzang","sequence":"additional","affiliation":[{"name":"Department of Neonatology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianna","family":"Bugiani","sequence":"additional","affiliation":[{"name":"Department of Pathology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart","family":"Straver","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene M.","family":"Kuipers","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wes","family":"Onland","sequence":"additional","affiliation":[{"name":"Department of Neonatology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eline A.","family":"Nannenberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally\u2010Ann","family":"Clur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia N.","family":"& van der Crabben","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam University Medical Centers Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00395-015-0522-5"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsha.2013.03.180"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.3.369"},{"key":"e_1_2_9_5_1","unstructured":"Database G. A. (2020)G650del variant. Retrieved fromhttps:\/\/gnomad.broadinstitute.org\/variant\/1\u201078408430\u2010TGGA\u2010T?dataset=gnomad_r2_1"},{"key":"e_1_2_9_6_1","unstructured":"Database G. A. (2019)R392* variant. Retrieved fromhttps:\/\/gnomad.broadinstitute.org\/variant\/1\u201078399087\u2010C\u2010T?dataset=gnomad_r2_1"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(97)00434-8"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu301"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2037"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951119001860"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0189489"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.119.039751"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2008.02.006"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2013.02.003"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.296.15.1867"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62231","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62231","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:40:17Z","timestamp":1693212017000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,5]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62231"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62231","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,5]]},"assertion":[{"value":"2020-11-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}