{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:27:58Z","timestamp":1790015278967,"version":"4.0.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,16]],"date-time":"2021-02-16T00:00:00Z","timestamp":1613433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014857","name":"National Natural Science Foundation of China-Guangdong Joint Fund","doi-asserted-by":"publisher","award":["81871790"],"award-info":[{"award-number":["81871790"]}],"id":[{"id":"10.13039\/501100014857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and\/or retinal degeneration with retinal detachment and cleft palate. A mutation in the\n                      <jats:italic>COL2A1<\/jats:italic>\n                      gene located in 12q13.11 is considered as one of the important causes of SEDC. In 2016, Barat\u2010Houari et al. reported a large number of\n                      <jats:italic>COL2A1<\/jats:italic>\n                      mutations. Among them, a non\u2010synonymous mutation in\n                      <jats:italic>COL2A1<\/jats:italic>\n                      exon 37, c.2437G&gt;A (p. Gly813Arg), has been reported to cause SEDC in only one patient from France so far.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We followed up a patient with SEDC phenotype and his family members. The clinical manifestations, physical examination and imaging examination, including X\u2010ray, CT and MRI, were recorded. The whole\u2010exome sequencing was used to detect the patients' genes, and the pathogenic genes were screened out by comparing with many databases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We report a Chinese patient with SEDC phenotype characterized by short trunk, abnormal epiphysis, flattened vertebral body, narrow intervertebral space, dysplasia of the odontoid process, chicken chest, scoliosis, hip and knee dysplasia, and joint hypertrophy. Gene sequencing analysis showed that the patient had a heterozygous mutation (c.2437G&gt;A; p. Gly813Arg) in the\n                      <jats:italic>COL2A1<\/jats:italic>\n                      gene. No\n                      <jats:italic>COL2A1<\/jats:italic>\n                      mutation or SEDC phenotype was observed in his family members. This is the first report of SEDC caused by this mutation in an East Asian family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This report provides typical clinical, imaging, and genetic evidence for SEDC, confirming that a de novo mutation in the\n                      <jats:italic>COL2A1<\/jats:italic>\n                      gene, c.2437G&gt;A (p. Gly813Arg), causes SEDC in Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.23728","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T05:06:11Z","timestamp":1613538371000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel\n                    <i>COL2A1<\/i>\n                    mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family"],"prefix":"10.1002","volume":"35","author":[{"given":"Tangjun","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqian","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifan","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiankun","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changqing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1000-5641","authenticated-orcid":false,"given":"Jie","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Shanghai Key Laboratory of Orthopedic Implants Ninth People\u2019s Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S197205"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22915"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14768"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14887"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00129"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.9.1612"},{"key":"e_1_2_6_9_1","first-page":"1","volume-title":"GeneReviews((R))","author":"Gregersen 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