{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:36:15Z","timestamp":1777660575924,"version":"3.51.4"},"reference-count":26,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"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":[[2021,2]]},"abstract":"<jats:sec>\n                    <jats:title>Aim:<\/jats:title>\n                    <jats:p>\n                      To detect mutations in the\n                      <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      genes in four Chinese families with hereditary multiple osteochondromas (HMO). HMO is an autosomal dominant disorder characterized by the overgrowth of multiple cartilage-capped bones in the metaphysis of long bones and flat bones.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Polymerase chain reaction-based amplification followed by DNA sequencing of the complete coding sequences of\n                      <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      was performed for four Chinese families with HMO.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The mutant allele was found in six patients: three mutations were found in\n                      <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                      and two in\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      . A novel frameshift mutation, which generates a premature stop codon at codon 586 and causes partial loss of the glycosyltransferase domain, was detected in exon 9 of EXT1 (F579Yfs*8). We hypothesize that F579Yfs*8 is a pathogenic mutation. Two novel missense mutations (G339S and V545D) were found in\n                      <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                      . The variant c.1634T&gt;A (V545D) is apparently benign. In addition we found a novel deletion mutation in\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      , c.856_864 del TTCCTCCTG, which results in the deletion of 286Phe, 287Leu, and 288Leu, that is likely pathogenic. Finally, we identified a likely benign variant in exon 13 of\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      . c.2035-41T&gt;C (rs3740878).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      We found three novel, potentially pathogenic mutations in\n                      <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                      , including a novel frameshift mutation. More importantly, our study results have expanded the spectrum of\n                      <jats:italic toggle=\"yes\">EXT<\/jats:italic>\n                      mutations conducive to the genetic diagnosis and counseling of patients with HMO.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2020.0098","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T16:40:45Z","timestamp":1613580045000},"page":"145-151","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of Novel Mutations in the\n                    <i>EXT1<\/i>\n                    and\n                    <i>EXT2<\/i>\n                    Genes of Chinese Patients with Hereditary Multiple Osteochondromas"],"prefix":"10.1177","volume":"25","author":[{"given":"Yu","family":"Tong","sequence":"first","affiliation":[{"name":"The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 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":"Junchao","family":"Luo","sequence":"additional","affiliation":[{"name":"The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheping","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Zhejiang Provincial People's Hospital and People's Hospital of Hangzhou Medical College, Hangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinji","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Zhejiang Provincial People's Hospital and People's Hospital of Hangzhou Medical College, Hangzhou, 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, China."},{"name":"Department of Orthopedic Surgery, Zhejiang Provincial People's Hospital and People's Hospital of Hangzhou Medical College, Hangzhou, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,2,15]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-137"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwt024"},{"key":"e_1_3_4_4_1","first-page":"110","article-title":"Hereditary multiple exostoses: a review of clinical appearance and metabolic pattern","volume":"13","author":"Beltrami G","year":"2016","unstructured":"Beltrami G, , Ristori G, , Scoccianti G, et al. (2016) Hereditary multiple exostoses: a review of clinical appearance and metabolic pattern. Clin Cases Miner Bone Metab, 13:110-118.","journal-title":"Clin Cases Miner Bone Metab"},{"key":"e_1_3_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M703560200"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M308314200"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.3892\/or.2013.2891"},{"key":"e_1_3_4_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2020.0017"},{"key":"e_1_3_4_10_1","first-page":"199","article-title":"Hereditary multiple exostoses: current insights","volume":"11","author":"D'Arienzo A","year":"2019","unstructured":"D'Arienzo A, , Andreani L, , Sacchetti F, et al. (2019) Hereditary multiple exostoses: current insights. 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