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Molecular defects causal to <jats:styled-content style=\"fixed-case\">JLNS<\/jats:styled-content> are either homozygous or compound heterozygous mutations, predominantly in the <jats:italic><jats:styled-content style=\"fixed-case\">KCNQ1<\/jats:styled-content><\/jats:italic> gene and occasionally in the <jats:italic><jats:styled-content style=\"fixed-case\">KCNE1<\/jats:styled-content><\/jats:italic> gene. As the molecular defect is bi\u2010allelic, <jats:styled-content style=\"fixed-case\">JLNS<\/jats:styled-content> patients inherit one pathogenic mutation causal to the disorder from each parent. In this report, we show for the first time that such a disorder could also occur due to a spontaneous <jats:italic>de novo<\/jats:italic> mutation in the affected individual, not inherited from the parent, which makes this case unique unlike the previously reported <jats:styled-content style=\"fixed-case\">JLNS<\/jats:styled-content> cases.<\/jats:p>","DOI":"10.1111\/cge.12300","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T11:32:13Z","timestamp":1381750333000},"page":"492-495","source":"Crossref","is-referenced-by-count":9,"title":["<i>De novo<\/i> mutation in the <i><scp>KCNQ1<\/scp><\/i> gene causal to Jervell and Lange\u2010Nielsen syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"J.Y.","family":"Al\u2010Aama","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine King Abdulaziz University Hospital Jeddah Saudi Arabia"},{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Al\u2010Ghamdi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Prince Sultan Cardiac Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.Y.","family":"Bdier","sequence":"additional","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.A.M.","family":"Wilde","sequence":"additional","affiliation":[{"name":"Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders King Abdulaziz University Jeddah Saudi Arabia"},{"name":"Department of Cardiology, Academic Medical Center University of Amsterdam Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahurul A.","family":"Bhuiyan","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Service de G\u00e9n\u00e9tique M\u00e9dicale CHUV Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(57)90079-0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2006.00587.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.592899"},{"key":"e_1_2_6_5_1","first-page":"359","article-title":"The Jervell and Lange\u2010Nielsen syndrome. 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