{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T16:04:46Z","timestamp":1769357086985,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Laminopathies caused by <jats:italic>LMNA<\/jats:italic> gene mutations are characterized by different clinical manifestations. Among them, cardiac involvement is one of the most severe phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 30\u2010year\u2010old man visited the hospital because of palpitations, shortness of breath, and fatigue. He also had muscular dystrophy, joint contractures, scoliosis, and mild dysphagia. A novel <jats:italic>de novo<\/jats:italic> heterozygous <jats:italic>LMNA<\/jats:italic> splice variant (c.810+1G&gt;T) with dilated cardiomyopathy, Emery\u2013Dreifuss muscular dystrophy, and progressive cardiac conduction defect was identified by genetic analysis. The patient also presented with congenital aortic valve malformation, which has never been reported in laminopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The <jats:italic>LMNA<\/jats:italic> mutation (c.810+1G&gt;T) was identified for the first time, enriching the mutation spectrum of the <jats:italic>LMNA<\/jats:italic> gene. The correlation between an <jats:italic>LMNA<\/jats:italic> mutation and congenital aortic valve malformation deserves further study.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23736","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T17:40:56Z","timestamp":1614188456000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A splicing <i>LMNA<\/i> mutation causing laminopathies accompanied by aortic valve malformation"],"prefix":"10.1002","volume":"35","author":[{"given":"Jingwen","family":"Tao","sequence":"first","affiliation":[{"name":"Division of Cardiology Department of Internal Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Key Laboratory of Genetics and Molecular Mechanism of Cardiological Disorders Huazhong University of Science and Technology  Wuhan 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