{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:34Z","timestamp":1790516554348,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development program of China","doi-asserted-by":"publisher","award":["2016YFC0905102 and 2016YFC0901500"],"award-info":[{"award-number":["2016YFC0905102 and 2016YFC0901500"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873667"],"award-info":[{"award-number":["81873667"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the transforming growth factor \u03b2\u2010binding protein\u2010like domain 5 (TB5) region of <jats:italic>FBN1<\/jats:italic> can lead to autosomal acromelic dysplasia and Marfan syndrome, which are two diseases with apparently opposite phenotypes. We identified six patients with acromelic dysplasia carrying either the previously reported mutations c.5284G\u2009&gt;\u2009A (p.Gly1762Ser) and c.5096A\u2009&gt;\u2009G (p.Tyr1699Cys) or the novel mutation c.5260G\u2009&gt;\u2009A (p.Gly1754Ser). A systematic review of patients with mutations in the <jats:italic>FBN1<\/jats:italic>\u2010TB5 region showed that acromelic dysplasia is caused only by in\u2010frame amino acid substitutions. In contrast, truncating mutations in the <jats:italic>FBN1<\/jats:italic>\u2010TB5 have been reported only in Marfan syndrome. Acromelic dysplasia subtypes that share symptoms with Marfan syndrome are associated with <jats:italic>FBN1<\/jats:italic>\u2010TB5 disulfide disruptions, which are also commonly found in Marfan syndrome. These results suggest that the type and location of mutations in the <jats:italic>FBN1<\/jats:italic>\u2010TB5 region determine the clinical spectrum of fibrillinopathy.<\/jats:p>","DOI":"10.1002\/bdr2.1814","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T12:23:19Z","timestamp":1602159799000},"page":"1834-1842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Separation in genetic pathogenesis of mutations in <scp><i>FBN1<\/i>\u2010TB5<\/scp> region between autosomal dominant acromelic dysplasia and Marfan syndrome"],"prefix":"10.1002","volume":"112","author":[{"given":"Chengjun","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhou","family":"Pei","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"},{"name":"The Molecular Genetic Diagnosis Center, Pediatrics Research Institute Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongwei","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Radiology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6433-7994","authenticated-orcid":false,"given":"Feihong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengqing","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117298"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048634"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36044"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.018"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.018"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00845.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000446476"},{"issue":"2","key":"e_1_2_8_11_1","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1172\/JCI117737","article-title":"Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype","volume":"95","author":"Eldadah Z. A.","year":"1995","journal-title":"The Journal of Clinical Investigation"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.34"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv739"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2016-310631"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007193230303"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg241"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv181"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2009.03.014"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2011.12.008"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2017.37.1.92"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200420641"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom10040596"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31337"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.10.060"},{"key":"e_1_2_8_27_1","volume-title":"GeneReviews\u00ae","author":"Marzin P.","year":"1993"},{"issue":"13","key":"e_1_2_8_28_1","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1093\/hmg\/9.13.1987","article-title":"Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context","volume":"9","author":"McGettrick A. J.","year":"2000","journal-title":"Human Molecular Genetics"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/352279a0"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61268"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38353"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.961"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.06.061"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.11.8.2691"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002425"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1282"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.73"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg081"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<68::AID-AJMG11>3.0.CO;2-P"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.22.6659"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1814","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdr2.1814","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1814","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T15:33:04Z","timestamp":1693841584000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.1814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,8]]},"references-count":40,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/bdr2.1814"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.1814","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,8]]},"assertion":[{"value":"2020-08-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}