{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:43Z","timestamp":1761718063688},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T00:00:00Z","timestamp":1208217600000},"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":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin\u20101 gene (<jats:italic>FBN1<\/jats:italic>). The majority of these are family\u2010specific point mutations, with a small number being predicted to cause exon\u2010skipping. To date, there have only been five reports of in\u2010frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32229","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T16:55:08Z","timestamp":1208278508000},"page":"1320-1324","source":"Crossref","is-referenced-by-count":22,"title":["Severe Marfan syndrome due to FBN1 exon deletions"],"prefix":"10.1002","volume":"146A","author":[{"given":"Moira","family":"Blyth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Foulds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Turner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Bunyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,4,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550207.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302545"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8430317"},{"key":"e_1_2_5_6_1","first-page":"472","article-title":"Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome","volume":"53","author":"Godfrey M","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30979"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg241"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.13.5917"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-64"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10112"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1581"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-328"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-2-11"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.161.20.2447"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0371-x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819109023078"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302144"},{"key":"e_1_2_5_19_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_20_1","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek G","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-006-0003-9"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3020889"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/302309"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2006.11.006"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31660"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.607"}],"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.32229","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32229","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:34:15Z","timestamp":1697610855000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32229"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,15]]},"references-count":26,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2008,5,15]]}},"alternative-id":["10.1002\/ajmg.a.32229"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32229","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,15]]}}}