{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:27:26Z","timestamp":1789442846795,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,4,23]],"date-time":"2008-04-23T00:00:00Z","timestamp":1208908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:p>Fibrillin\u20101 gene (<jats:italic>FBN1<\/jats:italic>) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems. We analyzed <jats:italic>FBN1 <\/jats:italic>gene in 99 patients referred to our Center for Marfan Syndrome and Related Disorders (University of Florence, Florence, Italy): 85 were affected by MFS and 14 by other fibrillinopathies type I. We identified mutations in 80 patients. Among the 77 different mutational events, 46 had not been previously reported. They are represented by 49 missense (61%), 1 silent (1%), 13 nonsense (16%), 6 donor splice site mutations (8%), 8 small deletions (10%), and 3 small duplications (4%). The majority of missense mutations were within the calcium\u2010binding epidermal growth factor\u2010like domains. We found preferential associations between The Cys\u2010missense mutations and ectopia lentis and premature termination codon mutations and skeletal manifestations. In contrast to what reported in literature, the cardiovascular system is severely affected also in patients carrying mutations in exons 1\u201310 and 59\u201365. In conclusion, we were able to detect <jats:italic>FBN1 <\/jats:italic>mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that <jats:italic>FBN1 <\/jats:italic>mutations are good predictors of classic MFS.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01007.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:13:50Z","timestamp":1232705630000},"page":"39-46","source":"Crossref","is-referenced-by-count":47,"title":["<i>FBN1 <\/i>mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel <i>FBN1 <\/i>mutations"],"prefix":"10.1111","volume":"74","author":[{"given":"M","family":"Attanasio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Lapini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Evangelisti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Lucarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Giusti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MC","family":"Porciani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Fattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Anichini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Abbate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GF","family":"Gensini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Pepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,28]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2001.1029"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5697"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.961"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/352334a0"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039669"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1392"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20354"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20353"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0078-1"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc062573"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmcc.1997.0426"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590610.x"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"issue":"1","key":"e_1_2_8_17_2","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_8_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.34"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20586"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"e_1_2_8_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(90)83018-5"},{"key":"e_1_2_8_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-328"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9207"},{"key":"e_1_2_8_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10113"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9075"},{"key":"e_1_2_8_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9377"},{"key":"e_1_2_8_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31759"},{"key":"e_1_2_8_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10112"},{"key":"e_1_2_8_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20070"},{"key":"e_1_2_8_30_2","first-page":"2242","article-title":"Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? 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