{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:40Z","timestamp":1790516620211,"version":"4.1.0"},"reference-count":113,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T00:00:00Z","timestamp":1638144000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de La Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>The term \u201cfibrillinopathies\u201d gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes. The first described fibrillinopathy, Marfan syndrome (MFS), is a multisystem disease with a unique combination of skeletal, thoracic aortic aneurysm (TAA) and ocular features. The numerous <jats:italic>FBN1<\/jats:italic> mutations identified in MFS are located all along the gene, leading to the same pathogenic mechanism. The geleophysic\/acromicric dysplasias (GD\/AD), characterized by short stature, short extremities, and joint limitation are described as \u201cthe mirror image\u201d of MFS. Previously, in GD\/AD patients, we identified heterozygous <jats:italic>FBN1<\/jats:italic> mutations all affecting TGF\u03b2-binding protein-like domain 5 (TB5). ADAMTS10, ADAMTS17 and, ADAMTSL2 are also involved in the pathogenic mechanism of acromelic dysplasia. More recently, in TAA patients, we identified mutations in <jats:italic>THSD4<\/jats:italic>, encoding ADAMTSL6, a protein belonging to the ADAMTSL family suggesting that ADAMTSL proteins are also involved in the Marfanoid spectrum. Together with human genetic data and generated knockout mouse models targeting the involved genes, we provide herein an overview of the role of fibrillin-1 in opposite phenotypes. Finally, we will decipher the potential biological cooperation of ADAMTS-fibrillin-1 involved in these opposite phenotypes.<\/jats:p>","DOI":"10.3389\/fgene.2021.734718","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T13:26:13Z","timestamp":1638365173000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":12,"title":["Cooperative Mechanism of ADAMTS\/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias"],"prefix":"10.3389","volume":"12","author":[{"given":"Pauline","family":"Arnaud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zakaria","family":"Mougin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carine","family":"Le Goff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,11,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1136\/jmg.2010.087544","article-title":"Molecular Screening of ADAMTSL2 Gene in 33 Patients Reveals the Genetic Heterogeneity of Geleophysic Dysplasia","volume":"48","author":"Allali","year":"2011","journal-title":"J. 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