{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:14:49Z","timestamp":1790014489759,"version":"4.0.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.ejmg.2020.103869","type":"journal-article","created":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T22:51:18Z","timestamp":1580338278000},"page":"103869","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3"],"prefix":"10.1016","volume":"63","author":[{"given":"Sami","family":"Bizzari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"El-Bazzal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratibha","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Younan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Stora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephany","family":"El-Hayek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Delague","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1186\/s13059-016-1102-1","article-title":"Revisiting the morbid genome of Mendelian disorders","volume":"17","author":"Abouelhoda","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ejmg.2020.103869_bib2","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.jpsychires.2017.03.009","article-title":"Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls","volume":"91","author":"Balestri","year":"2017","journal-title":"J. Psychiatr. Res."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103869_bib3","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/nrg2520","article-title":"Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations","volume":"10","author":"Bateman","year":"2009","journal-title":"Nat. Rev. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003210","article-title":"A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity","volume":"9","author":"Cloutier","year":"2013","journal-title":"PLoS Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib5","doi-asserted-by":"crossref","first-page":"8706","DOI":"10.1038\/s41598-018-26818-2","article-title":"Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss","volume":"8","author":"Dantas","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejmg.2020.103869_bib6","article-title":"Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype","author":"Driver","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.103869_bib7","doi-asserted-by":"crossref","first-page":"10833","DOI":"10.1038\/ncomms10833","article-title":"Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like","volume":"7","author":"Ebrahim","year":"2016","journal-title":"Nat. Commun."},{"issue":"4","key":"10.1016\/j.ejmg.2020.103869_bib8","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/S1567-133X(03)00084-X","article-title":"Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy","volume":"3","author":"Ehlermann","year":"2003","journal-title":"Gene Expr. Patterns"},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib9","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1093\/hmg\/ddx392","article-title":"Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway","volume":"27","author":"Fernandez-Godino","year":"2018","journal-title":"Hum. Mol. Genet."},{"issue":"19","key":"10.1016\/j.ejmg.2020.103869_bib10","doi-asserted-by":"crossref","first-page":"5555","DOI":"10.1093\/hmg\/ddv287","article-title":"A local complement response by RPE causes early-stage macular degeneration","volume":"24","author":"Fernandez-Godino","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib11","doi-asserted-by":"crossref","first-page":"9679","DOI":"10.1038\/s41598-018-28143-0","article-title":"C3a triggers formation of sub-retinal pigment epithelium deposits via the ubiquitin proteasome pathway","volume":"8","author":"Fernandez-Godino","year":"2018","journal-title":"Sci. Rep."},{"issue":"20","key":"10.1016\/j.ejmg.2020.103869_bib12","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1093\/hmg\/ddm198","article-title":"The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice","volume":"16","author":"Fu","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2020.103869_bib13","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0141472","article-title":"Lysine methylation of the valosin-containing protein (VCP) is dispensable for development and survival of mice","volume":"10","author":"Fusser","year":"2015","journal-title":"PloS One"},{"issue":"Pt 11","key":"10.1016\/j.ejmg.2020.103869_bib14","doi-asserted-by":"crossref","first-page":"2897","DOI":"10.1093\/brain\/awu224","article-title":"A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease","volume":"137","author":"Gonzalez","year":"2014","journal-title":"Brain"},{"issue":"16","key":"10.1016\/j.ejmg.2020.103869_bib15","doi-asserted-by":"crossref","first-page":"4484","DOI":"10.1128\/MCB.00252-09","article-title":"Hereditary inclusion body myopathy-linked p97\/VCP mutations in the NH2 domain and the D1 ring modulate p97\/VCP ATPase activity and D2 ring conformation","volume":"29","author":"Halawani","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ejmg.2020.103869_bib16","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/bs.mcb.2017.08.014","article-title":"Expression and purification of recombinant fibulins in mammalian cells","volume":"143","author":"Hanada","year":"2018","journal-title":"Methods Cell Biol."},{"issue":"10","key":"10.1016\/j.ejmg.2020.103869_bib17","article-title":"Collagenopathies-implications for abdominal wall reconstruction: a systematic review","volume":"4","author":"Harrison","year":"2016","journal-title":"Plast. Reconstr. Surg. Glob. Open"},{"issue":"3","key":"10.1016\/j.ejmg.2020.103869_bib18","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1002\/art.39963","article-title":"Role of fibulin 3 in aging-related joint changes and osteoarthritis pathogenesis in human and mouse knee cartilage","volume":"69","author":"Hasegawa","year":"2017","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.ejmg.2020.103869_bib19","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/978-3-319-17121-0_21","article-title":"Malattia leventinese\/doyne Honeycomb retinal dystrophy: similarities to age-related macular degeneration and potential therapies","volume":"854","author":"Hulleman","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"issue":"5957","key":"10.1016\/j.ejmg.2020.103869_bib20","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1126\/science.1176009","article-title":"The extracellular matrix: not just pretty fibrils","volume":"326","author":"Hynes","year":"2009","journal-title":"Science"},{"issue":"5","key":"10.1016\/j.ejmg.2020.103869_bib21","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.ejmg.2020.103869_bib22","doi-asserted-by":"crossref","first-page":"10130","DOI":"10.1038\/ncomms10130","article-title":"A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia","volume":"6","author":"Jorgenson","year":"2015","journal-title":"Nat. Commun."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib23","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1001\/jamafacial.2017.0793","article-title":"Characteristics, diagnosis, and management of ehlers-danlos syndromes: a review","volume":"20","author":"Joseph","year":"2018","journal-title":"JAMA Facial Plast. Surg."},{"key":"10.1016\/j.ejmg.2020.103869_bib24","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ncomms2041","article-title":"Lysine methylation of VCP by a member of a novel human protein methyltransferase family","volume":"3","author":"Kernstock","year":"2012","journal-title":"Nat. Commun."},{"issue":"7","key":"10.1016\/j.ejmg.2020.103869_bib25","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/ng.3011","article-title":"Genome-wide association analysis identifies six new loci associated with forced vital capacity","volume":"46","author":"Loth","year":"2014","journal-title":"Nat. Genet."},{"issue":"20","key":"10.1016\/j.ejmg.2020.103869_bib26","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1093\/hmg\/ddm199","article-title":"Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration","volume":"16","author":"Marmorstein","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"24","key":"10.1016\/j.ejmg.2020.103869_bib27","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1093\/hmg\/ddm264","article-title":"Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice","volume":"16","author":"McLaughlin","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103869_bib28","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1002\/ajmg.a.35279","article-title":"Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?","volume":"158A","author":"Megarbane","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2020.103869_bib29","doi-asserted-by":"crossref","first-page":"55","DOI":"10.2147\/TACG.S96233","article-title":"Marfan syndrome: current perspectives","volume":"9","author":"Pepe","year":"2016","journal-title":"Appl. Clin. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib30","doi-asserted-by":"crossref","first-page":"206","DOI":"10.2353\/ajpath.2009.080212","article-title":"Failure of pelvic organ support in mice deficient in fibulin-3","volume":"174","author":"Rahn","year":"2009","journal-title":"Am. J. Pathol."},{"issue":"6","key":"10.1016\/j.ejmg.2020.103869_bib31","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/j.jvs.2012.10.007","article-title":"The fibrillin-1 hypomorphic mgR\/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta","volume":"57","author":"Schwill","year":"2013","journal-title":"J. Vasc. Surg."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103869_bib32","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1167\/iovs.16-20955","article-title":"Deletion of Efemp1 is protective against the development of sub-RPE deposits in mouse eyes","volume":"58","author":"Stanton","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"1","key":"10.1016\/j.ejmg.2020.103869_bib33","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/path.2924","article-title":"Discovery of a novel tumour metastasis-promoting gene, NVM-1","volume":"225","author":"Thiele","year":"2011","journal-title":"J. Pathol."},{"issue":"11","key":"10.1016\/j.ejmg.2020.103869_bib34","doi-asserted-by":"crossref","first-page":"7518","DOI":"10.1073\/pnas.102091699","article-title":"From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30","volume":"99","author":"Walsh","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.ejmg.2020.103869_bib35","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng.121","article-title":"Genome-wide association analysis identifies 20 loci that influence adult height","volume":"40","author":"Weedon","year":"2008","journal-title":"Nat. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2020.103869_bib36","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1016\/j.biocel.2010.03.009","article-title":"Unraveling the mechanism of elastic fiber assembly: the roles of short fibulins","volume":"42","author":"Yanagisawa","year":"2010","journal-title":"Int. J. Biochem. Cell Biol."},{"issue":"7","key":"10.1016\/j.ejmg.2020.103869_bib37","doi-asserted-by":"crossref","first-page":"3046","DOI":"10.1167\/iovs.17-21720","article-title":"Mutant fibulin-3 causes proteoglycan accumulation and impaired diffusion across Bruch's membrane","volume":"58","author":"Zayas-Santiago","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.ejmg.2020.103869_bib38","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.exer.2009.09.018","article-title":"Focus on molecules: fibulin-3 (EFEMP1)","volume":"90","author":"Zhang","year":"2010","journal-title":"Exp. Eye Res."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219304343?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721219304343?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:48:44Z","timestamp":1761709724000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721219304343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":38,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["S1769721219304343"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103869","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.103869","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103869"}}