{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T03:57:39Z","timestamp":1788494259378,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>\n                      Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in\n                      <jats:italic>COL2A1<\/jats:italic>\n                      . We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed genetic analyses of seven paediatric patients from unrelated Chinese families. Two patients received GH therapy, and their growth trajectories were monitored over 3.5 and 3\u2009years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic screening identified six missense mutations (Gly1110Ser, Gly1107Glu, Gly873Arg, Gly456Ala, Gly1062Ser and Gly1182Arg) and one intron variant in\n                      <jats:italic>COL2A1<\/jats:italic>\n                      . All patients (five girls and two boys, ranging from 2\u2009years and 7\u2009months to 12\u2009years) were diagnosed with SEDC, exhibiting disproportionate short stature and skeletal abnormalities. GH therapy resulted in height increases of 0.76 and 0.27 standard deviation scores over 3.5 and 3\u2009years, respectively, with no significant side effects.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study expands the mutation spectrum of\n                      <jats:italic>COL2A1<\/jats:italic>\n                      and supports the efficacy and safety of GH therapy in SEDC patients, highlighting the need for multi\u2010center studies to further investigate GH's therapeutic potential.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/apa.70029","type":"journal-article","created":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T02:09:16Z","timestamp":1739585356000},"page":"1720-1730","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Features of Seven\n                    <scp>COL2A1<\/scp>\n                    Variations in Chinese Children With Type\n                    <scp>II<\/scp>\n                    Collagen Disorders"],"prefix":"10.1111","volume":"114","author":[{"given":"Shumin","family":"Zhan","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Children's Hospital Zhejiang University 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