{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T21:23:21Z","timestamp":1784755401669,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,10]],"date-time":"2019-02-10T00:00:00Z","timestamp":1549756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["P20GM103629"],"award-info":[{"award-number":["P20GM103629"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["U54 GM104940"],"award-info":[{"award-number":["U54 GM104940"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:p>Mutations in the <jats:italic>COMP<\/jats:italic>, <jats:italic>COL9A1<\/jats:italic>, <jats:italic>COL9A2<\/jats:italic>, <jats:italic>COL9A3<\/jats:italic>, <jats:italic>MATN3<\/jats:italic>, and <jats:italic>SLC26A2<\/jats:italic> genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers. Follow\u2010up with whole\u2010exome sequencing analysis revealed a mutation c.2032G&gt;A (p.Gly678Arg) in the <jats:italic>COL2A1<\/jats:italic> gene (NCBI Reference Sequence: NM_001844.4), which co\u2010segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. One of the affected family members had a double\u2010layered patella, which is frequently seen in patients with autosomal recessive MED caused by <jats:italic>DTDST<\/jats:italic> mutations and sporadically in the dominant form of MED caused by <jats:italic>COL9A2<\/jats:italic> defect.<\/jats:p>","DOI":"10.1002\/ajmg.a.61049","type":"journal-article","created":{"date-parts":[[2019,2,11]],"date-time":"2019-02-11T04:26:22Z","timestamp":1549859182000},"page":"534-541","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Exome sequencing reveals a novel <i>COL2A1<\/i> mutation implicated in multiple epiphyseal dysplasia"],"prefix":"10.1002","volume":"179","author":[{"given":"Vinod","family":"Dasa","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery Louisiana State University Health Sciences Center  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.B.","family":"Eastwood","sequence":"additional","affiliation":[{"name":"Tulane Center for Aging, Department of Medicine Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Podgorski","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heewon","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Blackstock","sequence":"additional","affiliation":[{"name":"Tulane Center for Aging, Department of Medicine Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetyana","family":"Antoshchenko","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Rogala","sequence":"additional","affiliation":[{"name":"Department of Spine Surgery, Oncological Orthopedics and Traumatology W. Dega University Hospital, Poznan University of Medical Sciences  Poznan Poland"},{"name":"Department of Physiotherapy H. Cegielski State College  Gniezno Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadeusz","family":"Bieganski","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Polish Mother's Memorial Hospital Research Institute  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Michal","family":"Jazwinski","sequence":"additional","affiliation":[{"name":"Tulane Center for Aging, Department of Medicine Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5601-7253","authenticated-orcid":false,"given":"Malwina","family":"Czarny\u2010Ratajczak","sequence":"additional","affiliation":[{"name":"Tulane Center for Aging, Department of Medicine Tulane University School of Medicine  New Orleans Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/230949901302100230"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418518802900619"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2000.0760"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950307699"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.753566"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/324023"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1107\/S0907444904019158"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.53.622.464"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep32153"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2005.07.019"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201314"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24251"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27354"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-011-1850-x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1323-4"},{"key":"e_1_2_7_18_1","first-page":"e100505","article-title":"A novel p. 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