{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:29:40Z","timestamp":1791804580923,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T00:00:00Z","timestamp":1654214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Herein, we report a family with a marked history of SCD focusing on one SCD young adult case and one pediatric case with HCM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>For the deceased young adult, postmortem whole\u2010exome sequencing (WES) revealed a missense variant in the <jats:italic>ACTN2<\/jats:italic> gene: c.355G\u2009&gt;\u2009A; p.(Ala119Thr) confirming the mixed hypertrophic\/dilated cardiomyopathy phenotype detected in the autopsy. For the pediatric case, WES allowed us the identification of a novel frameshift variant in the <jats:italic>LZTR1<\/jats:italic> gene: c.1745delT; p.(Val582Glyfs*10) which confirms a clinical suspicion of HCM related to Noonan syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present study adds further evidence on the pathogenicity of <jats:italic>ACTN2<\/jats:italic>: p. Ala119Thr variant in SCD and expands the mutational spectrum of the <jats:italic>LZTR1<\/jats:italic> gene related to Noonan syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1954","type":"journal-article","created":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T09:45:16Z","timestamp":1654249516000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals <i>ACTN2<\/i> mutation related to hypertrophic\/dilated cardiomyopathy and a novel <i>LZTR1<\/i> variant associated with Noonan syndrome"],"prefix":"10.1002","volume":"10","author":[{"given":"Lilia","family":"Kraoua","sequence":"first","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Charles Nicolle Hospital  Tunis Tunisia"},{"name":"LR99ES10 Human Genetics Laboratory, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hager","family":"Jaouadi","sequence":"additional","affiliation":[{"name":"INSERM, Marseille Medical Genetics Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Allouche","sequence":"additional","affiliation":[{"name":"Department of Legal Medicine Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlem","family":"Achour","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Charles Nicolle Hospital  Tunis Tunisia"},{"name":"LR99ES10 Human Genetics Laboratory, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakim","family":"Kaouther","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology La Rabta Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habib Ben","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Cardiology Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Chaker","sequence":"additional","affiliation":[{"name":"Cardiologist of Free Practice Urbain Nord Center  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faouzi","family":"Maazoul","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Charles Nicolle Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Ouarda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology La Rabta Hospital  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0811-418X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Zaffran","sequence":"additional","affiliation":[{"name":"INSERM, Marseille Medical Genetics Aix Marseille Univ  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"M'rad","sequence":"additional","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Charles Nicolle Hospital  Tunis Tunisia"},{"name":"LR99ES10 Human Genetics Laboratory, Faculty of Medicine of Tunis University of Tunis El Manar  Tunis Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010014\u20100099\u20100"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fsigen.2015.07.010"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.11.016"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000496077"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ppedcard.2015.01.002"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000486"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrcr.2019.10.001"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20160421"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/imj.14359"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.249"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010019\u201001963\u20108"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2014.02.001"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M509073200"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.111.962043"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201911115"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13027"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2004.10.003"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010018\u20101951\u20107"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.12\u2010207969"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1954","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1954","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T12:09:47Z","timestamp":1692878987000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,3]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1002\/mgg3.1954"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1954","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,3]]},"assertion":[{"value":"2022-02-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1954"}}