{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:48:59Z","timestamp":1790430539099,"version":"4.1.0"},"reference-count":8,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2017]]},"abstract":"<b><i>Objective:<\/i><\/b> Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, <i>ELAC2<\/i>, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of <i>ELAC2<\/i> mutation. <b><i>Methods:<\/i><\/b> We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families. <b><i>Results:<\/i><\/b> A previously reported mutation (p.Phe154Leu) in <i>ELAC2<\/i> gene was detected in 16 families. The index cases presented between 2 and 7 months of age with HCM in 13 infants and dilated CMP (DCM) in 3. Pericardial effusion was observed in 7 infants (44%). All infants died with a median age of death of 4 months. Almost 1\/3 of them died during the initial presentation. <b><i>Conclusion:<\/i><\/b> Our study suggests screening the <i>ELAC2<\/i> gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in <i>ELAC2<\/i> gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.<\/jats:p>","DOI":"10.1159\/000465516","type":"journal-article","created":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T21:01:49Z","timestamp":1493154109000},"page":"188-192","source":"Crossref","is-referenced-by-count":27,"title":["The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous <b><i>ELAC2<\/i><\/b> Mutation"],"prefix":"10.1159","volume":"137","author":[{"given":"Zarghuna M.A.","family":"Shinwari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"Almesned","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Alakhfash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad M.","family":"Al-Rashdan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Al-Humaidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Alomrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malak","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Colak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Alwadai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monther","family":"Rababh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majid","family":"Al-Fayyadh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuhair N.","family":"Al-Hassnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,4,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.296.15.1867"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.621185"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.4330\/wjc.v6.i11.1156"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e328352207e"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0019152"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.006"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20383"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-002-0277-2"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465516","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465516","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/465516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:34:08Z","timestamp":1745429648000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000465516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2017,6,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000465516","archive":["Portico"],"relation":{},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"value":"0008-6312","type":"print"},{"value":"1421-9751","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}