{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:24Z","timestamp":1791041904179,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901919"],"award-info":[{"award-number":["81901919"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81920108021"],"award-info":[{"award-number":["81920108021"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2020A1515010078"],"award-info":[{"award-number":["2020A1515010078"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) is predominantly caused by mutations in sarcomeric genes. However, a subset of cases is attributed to genetic disorders unrelated to sarcomeric genes, such as Noonan syndrome (NS) and other RASopathies. In this study, we present a family with a history of sudden cardiac death (SCD) and focus on two adults with syndromic left ventricular hypertrophy (LVH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical evaluations, including echocardiography, were conducted to assess cardiac manifestations. Whole\u2010exome sequencing was performed to identify potential genetic variants underlying syndromic LVH in the study participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing revealed a missense variant in the <jats:italic>RAF1<\/jats:italic> gene, c.782C&gt;T (<jats:italic>p<\/jats:italic>.Pro261Leu). This variant confirmed the diagnosis of NS in the affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The findings of this study underscore the importance of family history investigation and genetic testing in diagnosing syndromic LVH. By identifying the underlying genetic cause, clinicians can better understand the etiology of RAS\u2010HCM and its association with SCD in young adults.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2290","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T08:36:23Z","timestamp":1696408583000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>RAF1<\/i> mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome"],"prefix":"10.1002","volume":"12","author":[{"given":"Jingjing","family":"Zheng","sequence":"first","affiliation":[{"name":"Faculty of Forensic Medicine, Zhongshan School of Medicine Sun Yat\u2010Sen University  Guangzhou China"},{"name":"Guangdong Province Translational Forensic Medicine Engineering Technology Research Center Sun Yat\u2010Sen University  Guangzhou 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