{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:34:16Z","timestamp":1790739256097,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2007,10,15]],"date-time":"2007-10-15T00:00:00Z","timestamp":1192406400000},"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":[[2007,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations involving elastic tissue proteins result in a broad spectrum of phenotypes affecting skin, skeleton, ocular and vascular structures, including tortuous blood vessels and cutis laxa. Here we report on a female newborn with apparently long fingers, aortic aneurysm, tortuous pulmonary arteries and mild generalized lax skin. She died at 27 days of age due to severe respiratory distress and inoperable systemic vascular abnormalities. Skin biopsy showed marked paucity and fragmentation of elastic fibers and autopsy revealed occlusion of the pulmonary artery. DNA analysis identified compound heterozygous mutations ((c.835C\u2009&gt;\u2009T (p.R279C)\/c.1070_1073dupCCGC) in fibulin\u20104, a recently recognized elastic fiber associated protein. Analyses of dermal fibroblasts from the patient indicated that fibulin\u20104 mRNAs with the 4\u2010bp duplication transcribed from one allele are probably subject to nonsense\u2010mediated decay, whereas synthesis and secretion of the missense R279C fibulin\u20104 protein from the other allele is severely impaired. Immunostaining demonstrated a total absence of fibulin\u20104 fibers in the extracellular matrix deposited by the patient's fibroblasts. Our studies provide evidence that deficiency in fibulin\u20104 leads to a perinatal lethal condition associated with elastic tissue abnormalities. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31980","type":"journal-article","created":{"date-parts":[[2007,10,16]],"date-time":"2007-10-16T01:16:38Z","timestamp":1192497398000},"page":"2635-2641","source":"Crossref","is-referenced-by-count":111,"title":["Compound heterozygous mutations in fibulin\u20104 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa"],"prefix":"10.1002","volume":"143A","author":[{"given":"Majed","family":"Dasouki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dessislava","family":"Markova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Garola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noe L.","family":"Charbonneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn Y.","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mon\u2010Li","family":"Chu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,10,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7400033"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.20003"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202937"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(99)00038-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/504304"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb03988.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051011"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.18.2113"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/373940"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.26.5.1700-1709.2006"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/377107"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.9.1135"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.109.12.2895"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034157"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.6.1021"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1130"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.176.5.3196"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.2.981"}],"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.31980","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31980","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:39:57Z","timestamp":1697596797000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31980"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,15]]},"references-count":21,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2007,11,15]]}},"alternative-id":["10.1002\/ajmg.a.31980"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31980","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,15]]}}}