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In this study, we screened mutations in the <jats:italic>EXT1<\/jats:italic>\/<jats:italic>EXT2<\/jats:italic> genes in four Chinese MO kindreds by direct sequencing. Three point mutations were detected, including a nonsense mutation in the <jats:italic>EXT2<\/jats:italic> gene (c.544C\u2009&gt;\u2009T) and two splice site mutations in the <jats:italic>EXT1<\/jats:italic> and <jats:italic>EXT2<\/jats:italic> genes, respectively (<jats:italic>EXT1<\/jats:italic>: c.1883\u2009+\u20091G\u2009&gt;\u2009A and <jats:italic>EXT2<\/jats:italic>: c.1173\u2009+\u20091G\u2009&gt;\u2009T). Although splice site mutations constitute at least 10% of all mutations that cause MO, there has been limited research on their pathogenic effect on RNA processing due to poor availability of patient RNA samples. In this study, ex vivo and in vivo splicing assays were used to investigate the effect of <jats:italic>EXT1<\/jats:italic> and <jats:italic>EXT2<\/jats:italic> mutations on aberrant splicing at the mRNA level. Our results indicate that identified splice site mutations can cause either cryptic splice site usage or exon skipping. \u00a9 2013 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 31:1492\u20131499, 2013<\/jats:p><\/jats:sec>","DOI":"10.1002\/jor.22378","type":"journal-article","created":{"date-parts":[[2013,4,29]],"date-time":"2013-04-29T12:32:40Z","timestamp":1367238760000},"page":"1492-1499","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel and recurrent mutations in the <i>EXT<\/i><i>1<\/i> and <i>EXT<\/i><i>2<\/i> genes in Chinese kindreds with multiple osteochondromas"],"prefix":"10.1002","volume":"31","author":[{"given":"Yuhong","family":"Wu","sequence":"first","affiliation":[{"name":"The Research Center for Medical Genomics, Key Laboratory of Medical Cell Biology Ministry of Education, China Medical University Shenyang 110001 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuesha","family":"Xing","sequence":"additional","affiliation":[{"name":"The Research Center for Medical Genomics, Key Laboratory of Medical Cell Biology Ministry of Education, China Medical University Shenyang 110001 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaonian","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Oncology The People's Hospital of Liaoning Province Shenyang 110016 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongwei","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Developing Pediatrics Shengjing Hospital, China Medical University Shenyang 110004 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihua","family":"Cao","sequence":"additional","affiliation":[{"name":"The Research Center for Medical Genomics, Key Laboratory of Medical Cell Biology Ministry of Education, China Medical University Shenyang 110001 China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shusen","family":"Wang","sequence":"additional","affiliation":[{"name":"The Research Center for Medical Genomics, 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