{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:05:41Z","timestamp":1757617541549,"version":"3.44.0"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"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":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>\n<jats:italic>FLNA (OMIM:300017)<\/jats:italic> is important during the development of the embryonic heart and vasculature. The genotype\u2013phenotype relationship of X\u2010linked myxomatous valvular dystrophy caused by <jats:italic>FLNA<\/jats:italic> mutation has been reported. We report a new <jats:italic>FLNA<\/jats:italic> gene mutation in two male fetuses of a Chinese family whose transmission pattern of congenital heart disease was consistent with X\u2010linked recessive inheritance. <jats:italic>FLNA<\/jats:italic> mutation should be considered as the cause in the family whose male members suffer from congenital valve dysplasia. Whole\u2010exome sequencing is necessary for them to find the genetic cause of the heart anomalies.<\/jats:p>","DOI":"10.1002\/jcu.23992","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T05:05:23Z","timestamp":1745816723000},"page":"1622-1626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel <scp><i>FLNA<\/i><\/scp> Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7595-0177","authenticated-orcid":false,"given":"Xian","family":"Yang","sequence":"first","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Hao","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hairui","family":"Sun","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Man","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowei","family":"Liu","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2764-9066","authenticated-orcid":false,"given":"Xiaoyan","family":"Gu","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6857-3516","authenticated-orcid":false,"given":"Yihua","family":"He","sequence":"additional","affiliation":[{"name":"Cardiac Ultrasound Medical Center Beijing Anzhen Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6505"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd2030233"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.22565"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2019.08.032"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.622621"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12265-011-9308-9"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehx505"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.23911"}],"container-title":["Journal of Clinical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcu.23992","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T05:51:30Z","timestamp":1757137890000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcu.23992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,28]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/jcu.23992"],"URL":"https:\/\/doi.org\/10.1002\/jcu.23992","archive":["Portico"],"relation":{},"ISSN":["0091-2751","1097-0096"],"issn-type":[{"type":"print","value":"0091-2751"},{"type":"electronic","value":"1097-0096"}],"subject":[],"published":{"date-parts":[[2025,4,28]]},"assertion":[{"value":"2024-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}