{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T05:26:44Z","timestamp":1783574804034,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,27]],"date-time":"2019-09-27T00:00:00Z","timestamp":1569542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"MEXT KAKENHI and\u00a0Cooperative Research Project Program of Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance, University of Tsukuba.\u00a0"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Supravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin gene (<jats:italic>ELN<\/jats:italic>) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fluorescent In situ hybridization (FISH) analysis and gene sequencing were performed in a two\u2010generation family in which severe form of SVAS was diagnosed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>None of the patients tested showed microdeletion of <jats:italic>ELN<\/jats:italic>, <jats:italic>LIMK1<\/jats:italic>, and D7S613. A novel nonsense mutation of <jats:italic>ELN<\/jats:italic> (c.160G&gt;T (p.(Gly54*)), RNA not analyzed) was found in exon 3 in three members; two of them died suddenly due to rapid progression of SVAS with possible arrhythmia in early infancy. A point mutation in the 5\u2019 untranslated region, which was previously suggested to be associated with SVAS, did not co\u2010segregate with the SVAS phenotype and found to be SNPs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.986","type":"journal-article","created":{"date-parts":[[2019,9,28]],"date-time":"2019-09-28T03:05:06Z","timestamp":1569639906000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel <i>ELN<\/i> mutation in a Japanese family with a severe form of supravalvular aortic stenosis"],"prefix":"10.1002","volume":"7","author":[{"given":"Kaori","family":"Sugiyama","sequence":"first","affiliation":[{"name":"Life Science Center for Survival Dynamics Tsukuba Advanced Research Alliance (TARA) University of Tsukuba Tsukuba Japan"},{"name":"Ph.D. Program in Human Biology School of Integrative and Global Majors University of Tsukuba Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6090-7531","authenticated-orcid":false,"given":"Hitoshi","family":"Horigome","sequence":"additional","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisheng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Ibaraki Children's Hospital Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Child Health Faculty of Medicine University of Tsukuba Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Shiono","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Ibaraki Children's Hospital Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3556-9585","authenticated-orcid":false,"given":"Yoshito","family":"Yamashiro","sequence":"additional","affiliation":[{"name":"Life Science Center for Survival Dynamics Tsukuba Advanced Research Alliance (TARA) University of Tsukuba Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Matsuura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Toho University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Yoda","sequence":"additional","affiliation":[{"name":"Department of Neonatology Toho University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7576-9186","authenticated-orcid":false,"given":"Hiromi","family":"Yanagisawa","sequence":"additional","affiliation":[{"name":"Life Science Center for Survival Dynamics Tsukuba Advanced Research Alliance (TARA) University of Tsukuba Tsukuba Japan"},{"name":"Division of Biomedical Science Faculty of Medicine University of Tsukuba Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90168-P"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/08035259850157868"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2018.09.032"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200564"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.181"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20150688"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0974-2069.157027"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.986","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.986","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.986","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,24]],"date-time":"2024-02-24T07:18:53Z","timestamp":1708759133000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,27]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1002\/mgg3.986"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.986","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,27]]},"assertion":[{"value":"2019-06-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e986"}}