{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T05:41:05Z","timestamp":1780638065051,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T00:00:00Z","timestamp":1410134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"RIC. Health Institute Carlos III.","award":["RD12\/0042\/0049. RD12\/0042\/0069"],"award-info":[{"award-number":["RD12\/0042\/0049. RD12\/0042\/0069"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,8]]},"abstract":"Arrhythmogenic right ventricular cardiomyopathy (ARVC<\/jats:styled-content>) is an important cause of malignant arrhythmia and sudden death particularly in young people. Although it is considered a desmosomal disease, mutations in non\u2010desmosomal genes have also been identified. We report on a family where a mutation in LDB3<\/jats:styled-content> is associated with this condition. The index case and first and second degree relatives underwent a complete clinical evaluation: physical examination, electrocardiography (ECG<\/jats:styled-content>), signal\u2010averaged ECG<\/jats:styled-content>, 2D<\/jats:styled-content> echocardiogram, cardiac magnetic resonance and 24\u2010h monitoring. After ruling out mutations in the five desmosomal genes, genetic testing by means of Next Generation Sequencing was carried out on the proband. A heterozygous missense mutation in LDB3<\/jats:styled-content> c.1051A<\/jats:styled-content>>G was identified. This result was confirmed by subsequent Sanger DNA<\/jats:styled-content> sequencing. Another six carriers were identified amongst her relatives. Three subjects fulfilled the criteria for a definitive diagnosis of ARVC<\/jats:styled-content> and one reached a borderline diagnosis. In conclusion, this is the first family with ARVC<\/jats:styled-content> where a mutation in LDB3<\/jats:styled-content> is associated with ARVC<\/jats:styled-content>. Next generation sequencing arises as a particular useful tool to point to new causative genes in ARVC<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12458","type":"journal-article","created":{"date-parts":[[2014,7,8]],"date-time":"2014-07-08T16:44:57Z","timestamp":1404837897000},"page":"172-176","source":"Crossref","is-referenced-by-count":33,"title":["A mutation in the Z\u2010line Cypher\/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy"],"prefix":"10.1111","volume":"88","author":[{"given":"J. M.","family":"Lopez\u2010Ayala","sequence":"first","affiliation":[{"name":"Department of Cardiology Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Ortiz\u2010Genga","sequence":"additional","affiliation":[{"name":"A Coru\u00f1a Biomedical Research Institute A Coru\u00f1a University Hospital A Coruna Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Gomez\u2010Milanes","sequence":"additional","affiliation":[{"name":"Department of Clinical Analysis Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lopez\u2010Cuenca","sequence":"additional","affiliation":[{"name":"Department of Cardiology Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Ruiz\u2010Espejo","sequence":"additional","affiliation":[{"name":"Department of Clinical Analysis Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. J.","family":"Sanchez\u2010Munoz","sequence":"additional","affiliation":[{"name":"Department of Cardiology Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Oliva\u2010Sandoval","sequence":"additional","affiliation":[{"name":"Department of Cardiology Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Monserrat","sequence":"additional","affiliation":[{"name":"A Coru\u00f1a Biomedical Research Institute A Coru\u00f1a University Hospital A Coruna Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. R.","family":"Gimeno","sequence":"additional","affiliation":[{"name":"Department of Cardiology Virgen de la Arrixaca University Hospital Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.03.002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfs119"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq387"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehr451"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.005405"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehs373"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2004.10.005"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.189"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.976936"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.08.008"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-012-0257-0"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199911)46:5<684::AID-ANA2>3.0.CO;2-#"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.109.929240"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.146.2.465"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200107092"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn400"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.10.021"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20376"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1021\/ci5001136"},{"key":"e_1_2_6_22_1","first-page":"916","article-title":"Gene symbol:LDB3","volume":"120","author":"Arbustini E","year":"2007","journal-title":"Hum Genet"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181d6f7c0"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12458","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:53:48Z","timestamp":1696326828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,8]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/cge.12458"],"URL":"https:\/\/doi.org\/10.1111\/cge.12458","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,8]]}}}