{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:27:11Z","timestamp":1777660031648,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2009,2,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Background:<\/jats:italic>\n                    Hereditary multiple exostosis (HME) is an autosomal dominant bone disorder, characterized by short stature and the presence of multiple benign tumors mainly at the ends of long bones. HME is genetically heterogeneous with two known genes on 8q24 (\n                    <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                    ) and 11p11 (\n                    <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                    ), and a third minor locus mapped to 19p (\n                    <jats:italic toggle=\"yes\">EXT3<\/jats:italic>\n                    ). The majority of\n                    <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                    mutations result in premature protein truncation and loss of function.\n                    <jats:italic toggle=\"yes\">Materials and Methods:<\/jats:italic>\n                    We analyzed two autosomal dominant HME families of Indian origin. Linkage analysis using fluorescently labeled microsatellite markers at the candidate gene regions was performed. Mutation analysis was carried out by bidirectional sequencing of purified PCR products.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    We found linkage in one family to\n                    <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                    and in the other family to\n                    <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                    . Mutation screening in the\n                    <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                    gene revealed a novel frameshift mutation, a single base deletion in exon 1 (c.142delC). This mutation segregated in all affected members and was absent in the unaffected family members and 60 unrelated controls. In the second family, a previously unreported stop mutation, the substitution c.817C&gt;T, was observed in the\n                    <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                    gene in all affected members and in none of the unaffected family members and 90 unrelated controls.\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    Our findings expand the mutation spectrum of\n                    <jats:italic toggle=\"yes\">EXT1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">EXT2<\/jats:italic>\n                    and highlight the genetic and phenotypic heterogeneity of HME.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2008.0055","type":"journal-article","created":{"date-parts":[[2009,2,25]],"date-time":"2009-02-25T08:02:08Z","timestamp":1235548928000},"page":"43-49","source":"Crossref","is-referenced-by-count":6,"title":["Novel\n                    <i>EXT1<\/i>\n                    and\n                    <i>EXT2<\/i>\n                    Mutations in Hereditary Multiple Exostoses Families of Indian Origin"],"prefix":"10.1177","volume":"13","author":[{"given":"Vanita","family":"Vanita","sequence":"first","affiliation":[{"name":"Guru Nanak Dev University","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Sperling","sequence":"additional","affiliation":[{"name":"Humboldt-University","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hardas Singh","family":"Sandhu","sequence":"additional","affiliation":[{"name":"Dr. Hardas Singh Orthopaedic Hospital and Super Speciality Research Centre","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parvinder Singh","family":"Sandhu","sequence":"additional","affiliation":[{"name":"Dr. Hardas Singh Orthopaedic Hospital and Super Speciality Research Centre","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jai Rup","family":"Singh","sequence":"additional","affiliation":[{"name":"Guru Nanak Dev University","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,2,9]]},"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0055","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:20Z","timestamp":1777447280000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2008.0055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2,1]]}},"alternative-id":["10.1089\/gtmb.2008.0055"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2008.0055","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,1]]}}}