{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T21:56:54Z","timestamp":1755035814523,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T00:00:00Z","timestamp":1620950400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neonatal Marfan syndrome is a severe, early onset presentation of pathogenic variants in <jats:italic>FBN1<\/jats:italic>. Because of the significant cardiac involvement and early mortality, nearly all reported cases have been de novo, and the disorder has not been documented to be inherited from a symptomatic parent. Here, we present a female infant with neonatal Marfan syndrome who was born to a father with Marfan syndrome. Prior to the birth of his daughter, the father had been found to have an <jats:italic>FBN1<\/jats:italic> missense variant of uncertain clinical significance. Initial familial variant testing of the infant did not reveal the same missense variant, but Sanger sequencing of <jats:italic>FBN1<\/jats:italic> subsequently identified a pathogenic splice site variant. The father was then found to have 10%\u201320% mosaicism for the same splice site variant.<\/jats:p>","DOI":"10.1002\/ajmg.a.62339","type":"journal-article","created":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T12:17:26Z","timestamp":1620994646000},"page":"2507-2513","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Symptomatic mosaicism for a novel <scp><i>FBN1<\/i><\/scp> splice site variant in a parent causing inherited neonatal Marfan syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5165-0842","authenticated-orcid":false,"given":"Julianne K.","family":"Postma","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Eastern Ontario Faculty of Medicine, University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Altamirano\u2010Diaz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics, London Health Sciences Centre, Schulich School of Medicine and Dentistry Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Anthony","family":"Rupar","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Laboratory Medicine, Pediatrics and Biochemistry, Children's Health Research Institute, London Health Sciences Centre Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria M.","family":"Siu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, London Health Sciences Centre, Schulich School of Medicine and Dentistry Western University  London Ontario Canada"},{"name":"Children's Health Research Institute  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,14]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1017\/S104795111200090X"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.1016\/S0092-8674(00)81259-3"},{"doi-asserted-by":"publisher","key":"e_1_2_9_4_1","DOI":"10.1002\/ajmg.a.32809"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.1086\/520125"},{"doi-asserted-by":"publisher","key":"e_1_2_9_6_1","DOI":"10.1136\/jmg.31.1.51"},{"doi-asserted-by":"publisher","key":"e_1_2_9_7_1","DOI":"10.1002\/ajmg.a.30979"},{"key":"e_1_2_9_8_1","first-page":"3481","article-title":"Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis","volume":"17","author":"Liang C.","year":"2011","journal-title":"Molecular Vision"},{"doi-asserted-by":"publisher","key":"e_1_2_9_9_1","DOI":"10.1038\/ng0897-328"},{"doi-asserted-by":"publisher","key":"e_1_2_9_10_1","DOI":"10.1136\/jmg.2009.072785"},{"doi-asserted-by":"publisher","key":"e_1_2_9_11_1","DOI":"10.1007\/s00439-007-0371-x"},{"doi-asserted-by":"publisher","key":"e_1_2_9_12_1","DOI":"10.1038\/s41436-018-0399-4"},{"doi-asserted-by":"publisher","key":"e_1_2_9_13_1","DOI":"10.1002\/humu.10113"},{"doi-asserted-by":"publisher","key":"e_1_2_9_14_1","DOI":"10.1002\/humu.20239"},{"doi-asserted-by":"publisher","key":"e_1_2_9_15_1","DOI":"10.1086\/302582"},{"doi-asserted-by":"publisher","key":"e_1_2_9_16_1","DOI":"10.1203\/PDR.0b013e3182097219"},{"doi-asserted-by":"publisher","key":"e_1_2_9_17_1","DOI":"10.1002\/ajmg.a.31660"},{"doi-asserted-by":"publisher","key":"e_1_2_9_18_1","DOI":"10.1097\/00019605-200504000-00005"},{"doi-asserted-by":"publisher","key":"e_1_2_9_19_1","DOI":"10.1038\/sj.ejhg.5200582"},{"doi-asserted-by":"publisher","key":"e_1_2_9_20_1","DOI":"10.1002\/ajmg.a.38489"},{"key":"e_1_2_9_21_1","first-page":"945","article-title":"A novel FBN1 mutation in a Chinese family with isolated ectopia lentis","volume":"18","author":"Yang G.","year":"2012","journal-title":"Molecular Vision"},{"doi-asserted-by":"publisher","key":"e_1_2_9_22_1","DOI":"10.1002\/ajmg.a.37035"},{"doi-asserted-by":"publisher","key":"e_1_2_9_23_1","DOI":"10.3109\/13816810.2012.718029"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62339","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62339","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62339","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:39:44Z","timestamp":1693211984000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62339"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,14]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ajmg.a.62339"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62339","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,5,14]]},"assertion":[{"value":"2021-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}