{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T18:09:15Z","timestamp":1782583755935,"version":"3.54.5"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T00:00:00Z","timestamp":1488412800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T00:00:00Z","timestamp":1488412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the <jats:italic>COL2A1<\/jats:italic> gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of <jats:italic>COL2A1<\/jats:italic>. This case suggests that a <jats:italic>COL2A1<\/jats:italic> C-propeptide mutation can cause atypical SEDC.<\/jats:p>","DOI":"10.1038\/hgv.2017.3","type":"journal-article","created":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T02:19:30Z","timestamp":1488421170000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita"],"prefix":"10.1038","volume":"4","author":[{"given":"Chieko","family":"Kusano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoaki","family":"Hori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Murotsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,2]]},"reference":[{"key":"BFhgv20173_CR1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/humu.22915","volume":"37","author":"M Barat-Houari","year":"2016","unstructured":"Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D et al. Mutaion update for COL2A1 gene variants associated with type II collagenopathies. Hum Mutat 2016; 37: 7\u201315.","journal-title":"Hum Mutat"},{"key":"BFhgv20173_CR2","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P","volume":"63","author":"B Zabel","year":"1996","unstructured":"Zabel B, Hilbert K, St\u00f6\u03b2 H, Superti-Furga, Spranger J, Winterpacht A . A Specific collagen type II Gene (COL2A1) mutation presenting as spondyloperiperal dysplasia. Am J Med Genet 1996; 63: 123\u2013128.","journal-title":"Am J Med Genet"},{"key":"BFhgv20173_CR3","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/humu.20179","volume":"26","author":"G Nishimura","year":"2005","unstructured":"Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M et al. The phenotypic spectrum of COL2A1 mutations. 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J Med Genet 2002; 39: 661\u2013665.","journal-title":"J Med Genet"},{"key":"BFhgv20173_CR6","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1038\/gim.2015.129","volume":"18","author":"J Bae","year":"2016","unstructured":"Bae J, Kim N, Lee C, Kim SC, Lee HR et al. Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. Genet Med 2016; 18: 563\u2013569.","journal-title":"Genet Med"},{"key":"BFhgv20173_CR7","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1002\/ajmg.a.36922","volume":"167","author":"P Terhal","year":"2015","unstructured":"Terhal P, Nievelstein R, Verver E, Topsakal V, Dommelen P, Hoornaert K et al. A Study of clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 2015; 167: 461\u2013475.","journal-title":"Am J Med Genet A"},{"key":"BFhgv20173_CR8","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.hgv.935","author":"Chieko Kusano","year":"2016","unstructured":"Kusano, Chieko HGV Database (2016) http:\/\/dx.doi.org\/10.6084\/m9.figshare.hgv.935"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/hgv20173.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv20173","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv20173.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T19:12:06Z","timestamp":1671736326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/hgv20173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,2]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,12,14]]}},"alternative-id":["BFhgv20173"],"URL":"https:\/\/doi.org\/10.1038\/hgv.2017.3","relation":{"references":[{"id-type":"doi","id":"10.6084\/m9.figshare.hgv.935","asserted-by":"subject"}]},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,2]]},"assertion":[{"value":"29 September 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 November 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 March 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17003"}}