{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:36:58Z","timestamp":1777660618490,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Multiple osteochondromas (MO) are an autosomal-dominant disease characterized by the growth of multiple cartilage-capped prominences in the growth plate region of the metaphysis in long and flat bones.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>To detect genetic mutations related to MO, a three-generation Chinese family with MO was evaluated using whole exome sequencing for mutation screening. The candidate pathogenic mutation was validated by Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A novel frameshift (NM_000401.3:c.1321del:p.Leu441TrpfsTer28) in exon 8 of the exotosin 2 (\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      ) gene was identified in two affected individuals. Codons 441 and 468 in the\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      gene are highly conserved among vertebrates as demonstrated by multiple sequence alignment. The c.1321 del C resulted in an amino acid change at codon 441, which generated a premature stop codon at position 468, causing complete loss of the glycosyltransferase domain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      A novel frameshift mutation c.1321delC detected in the\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      gene may help in prenatal genetic screening and early diagnosis of MO.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2020.0317","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T16:28:09Z","timestamp":1621355289000},"page":"361-367","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing"],"prefix":"10.1177","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9895-6948","authenticated-orcid":false,"given":"Yu","family":"Tong","sequence":"first","affiliation":[{"name":"The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China."},{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junchao","family":"Luo","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Graduate Department, Bengbu Medical College, Bengbu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheping","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinji","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jihang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Bi","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China."},{"name":"Department of Orthopedic Surgery, People's Hospital of Hangzhou Medical College, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,5,17]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008207.2015.1045066"},{"key":"e_1_3_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2015.06.004"},{"key":"e_1_3_5_4_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.N.00121"},{"key":"e_1_3_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11596-014-1230-3"},{"key":"e_1_3_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21123"},{"key":"e_1_3_5_7_1","doi-asserted-by":"crossref","unstructured":"Jones KB 2011 Glycobiology and the growth plate: current concepts in multiple hereditary exostoses. 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