{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T15:50:17Z","timestamp":1740153017257,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T00:00:00Z","timestamp":1544400000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370892","2016GSF201025"],"award-info":[{"award-number":["81370892","2016GSF201025"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Key Research Project of Shandong Province","award":["81370892","2016GSF201025"],"award-info":[{"award-number":["81370892","2016GSF201025"]}]},{"name":"Taishan Scholar\u2019s Special Expert Plan","award":["81370892","2016GSF201025"],"award-info":[{"award-number":["81370892","2016GSF201025"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Endocrinology"],"published-print":{"date-parts":[[2018,12,10]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. <jats:italic>Methods<\/jats:italic>. We extracted genomic DNA from five members of a four-generation Chinese SEDT kindred with three affected males and then analyzed the genetic mutation by PCR and DNA sequencing. <jats:italic>Results<\/jats:italic>. DNA sequencing showed that the genetic missense mutation occurred one bp upstream of exon 6 in the <jats:italic>SEDL<\/jats:italic> gene in two families, and a heterozygous mutation was found in a female carrier. In addition, no mutation was found in the other members of the family. <jats:italic>Conclusion<\/jats:italic>. SEDT in this family was caused by a G\/C missense mutation in exon 6 of the <jats:italic>SEDL<\/jats:italic> gene, previously not shown to be associated with X-linked SEDT.<\/jats:p>","DOI":"10.1155\/2018\/8263136","type":"journal-article","created":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T18:32:08Z","timestamp":1544466728000},"page":"1-7","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)"],"prefix":"10.1155","volume":"2018","author":[{"given":"Lei","family":"Kong","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China"},{"name":"Shandong Clinical Medical Centre of Endocrinology and Metabolism, China"},{"name":"Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9813-563X","authenticated-orcid":true,"given":"Dongxu","family":"Wang","sequence":"additional","affiliation":[{"name":"Shandong Cancer Hospital, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanshan","family":"Li","sequence":"additional","affiliation":[{"name":"Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, China"},{"name":"Shanghai Key Clinical Centre for Metabolic Disease, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengsheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shandong Cancer Hospital, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuyun","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China"},{"name":"Shandong Clinical Medical Centre of Endocrinology and Metabolism, China"},{"name":"Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingbo","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China"},{"name":"Shandong Clinical Medical Centre of Endocrinology and Metabolism, China"},{"name":"Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenlin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People\u2019s Hospital, China"},{"name":"Shanghai Key Clinical Centre for Metabolic Disease, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2039-2684","authenticated-orcid":true,"given":"Fei","family":"Jing","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China"},{"name":"Shandong Clinical Medical Centre of Endocrinology and Metabolism, China"},{"name":"Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2867-4616","authenticated-orcid":true,"given":"Jin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, China"},{"name":"Shandong Clinical Medical Centre of Endocrinology and Metabolism, China"},{"name":"Institute of Endocrinology and Metabolism, Shandong Academy of Clinical Medicine, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"issue":"12","key":"1","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","volume":"167","year":"2015","journal-title":"American Journal of Medical Genetics Part A"},{"doi-asserted-by":"publisher","key":"2","DOI":"10.3343\/alm.2012.32.3.234"},{"doi-asserted-by":"publisher","key":"3","DOI":"10.1126\/science.1224947"},{"doi-asserted-by":"publisher","key":"4","DOI":"10.4238\/2014.April.29.15"},{"doi-asserted-by":"publisher","key":"5","DOI":"10.4078\/jrd.2011.18.4.311"},{"issue":"1","key":"6","first-page":"7","volume":"5","year":"2012","journal-title":"Chinese Journal of Osteoporosis & Bone Mineral Research"},{"doi-asserted-by":"publisher","key":"7","DOI":"10.1038\/11976"},{"doi-asserted-by":"publisher","key":"8","DOI":"10.1371\/journal.pone.0010646"},{"doi-asserted-by":"publisher","key":"9","DOI":"10.1002\/ajmg.a.20435"},{"doi-asserted-by":"publisher","key":"10","DOI":"10.1016\/S0378-1119(03)00819-9"},{"doi-asserted-by":"publisher","key":"11","DOI":"10.3109\/03008207.2015.1026965"},{"doi-asserted-by":"publisher","key":"12","DOI":"10.1297\/cpe.24.139"},{"doi-asserted-by":"publisher","key":"13","DOI":"10.1086\/320592"},{"doi-asserted-by":"publisher","key":"14","DOI":"10.1016\/j.cca.2013.07.002"},{"doi-asserted-by":"publisher","key":"15","DOI":"10.1002\/humu.9254"},{"issue":"3","key":"16","first-page":"260","volume":"59","year":"2013","journal-title":"Turkish Journal of Physical Medicine and Rehabilitation"},{"doi-asserted-by":"publisher","key":"17","DOI":"10.1097\/01.brs.0000143621.37688.f3"},{"doi-asserted-by":"publisher","key":"18","DOI":"10.1038\/ejhg.2016.146"},{"doi-asserted-by":"publisher","key":"19","DOI":"10.1007\/s10897-015-9909-6"}],"container-title":["International Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2018\/8263136.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2018\/8263136.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ije\/2018\/8263136.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,10]],"date-time":"2018-12-10T18:32:14Z","timestamp":1544466734000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/ije\/2018\/8263136\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,10]]},"references-count":19,"alternative-id":["8263136","8263136"],"URL":"https:\/\/doi.org\/10.1155\/2018\/8263136","relation":{},"ISSN":["1687-8337","1687-8345"],"issn-type":[{"type":"print","value":"1687-8337"},{"type":"electronic","value":"1687-8345"}],"subject":[],"published":{"date-parts":[[2018,12,10]]}}}