{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:28:24Z","timestamp":1775305704377,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,3,15]],"date-time":"2007-03-15T00:00:00Z","timestamp":1173916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2\u20134 months of age. Screening of the <jats:italic>FBN1<\/jats:italic> gene showed the heterozygous c.3257G\u2009&gt;\u2009A (p.Cys1086Tyr) mutation in the proband. Mosaicism of the mutation was demonstrated in the somatic cells and in the germ line of the father. Although three examples of parental mosaicism for classical MFS were demonstrated previously, this is the first report of familial occurrence of neonatal MFS due to a heterozygous mutation in <jats:italic>FBN1<\/jats:italic>. In conclusion, the p.Cys1086Tyr mutation in <jats:italic>FBN1<\/jats:italic> is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31660","type":"journal-article","created":{"date-parts":[[2007,3,15]],"date-time":"2007-03-15T18:09:51Z","timestamp":1173982191000},"page":"875-880","source":"Crossref","is-referenced-by-count":47,"title":["Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the <i>FBN1<\/i> gene"],"prefix":"10.1002","volume":"143A","author":[{"given":"Mustafa","family":"Tekin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filiz Ba\u015fak","family":"Cengiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eda","family":"Ayberkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tan\u0131l","family":"Kendirli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suat","family":"Fitoz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ercan","family":"Tutar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ergin","family":"\u00c7ift\u00e7i","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atakan","family":"Conba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550207.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302545"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81259-3"},{"key":"e_1_2_5_6_1","first-page":"219","article-title":"Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin\u20101 gene","volume":"15","author":"Elcioglu NH","year":"2004","journal-title":"Genet Couns"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.51"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30979"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.156.11.1081"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67789-6"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-64"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20070"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302144"},{"key":"e_1_2_5_14_1","first-page":"888","article-title":"Diagnosis and management of infantile Marfan syndrome","volume":"86","author":"Morse RP","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302309"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1330-8"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10113"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.103.6.2499"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302582"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20174"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200504000-00005"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31660","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31660","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T15:30:49Z","timestamp":1699975849000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,15]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2007,4,15]]}},"alternative-id":["10.1002\/ajmg.a.31660"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31660","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,15]]}}}