{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:21Z","timestamp":1789949241504,"version":"4.0.1"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,1,25]]},"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Brachydactyly type A2 (BDA2) is an autosomal dominant disorder. It was recently reported that a 5.9\u2005kb duplication and a 5.5\u2005kb duplication in the region 20p12.2\u201312.3 are associated with BDA2 in two European families.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To characterise a 6-generation Chinese family with 16 members affected by BDA2 and map the gene to 20p12.2\u201312.3.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>A 4.6\u2005kb duplication downstream of the bone morphogenetic protein 2 (BMP2) was identified in the family. The duplication co-segregated with the phenotype and was absent in unaffected family members and control subjects. Coding and splice-site mutations of all annotated genes in the critical region were also excluded. The duplication partially overlaps with the reported duplications but has a different breakpoint. The most conserved 2.1\u2005kb fragment in the duplication was cloned into the pGL3-promoter vector downstream of the firefly luciferase reporter gene in the 5\u2032 to 3\u2032 orientation and transfected into osteosarcoma U-2OS and Hela cells. A reduced luciferase activity was observed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The smallest duplication is described, which partially overlaps the reported duplications but has a different breakpoint, and its association with BDA2 in a Chinese family is confirmed. The results also provide evidence for cis-regulatory sequences in the duplication 3\u2032 of <jats:italic>BMP2<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.084814","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T20:45:17Z","timestamp":1298753117000},"page":"312-316","source":"Crossref","is-referenced-by-count":12,"title":["A 4.6\u2005kb genomic duplication on 20p12.2\u201312.3 is associated with brachydactyly type A2 in a Chinese family"],"prefix":"10.1136","volume":"48","author":[{"given":"Peiqiang","family":"Su","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongke","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongsheng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weijun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangying","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim J","family":"Vyse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,2,26]]},"reference":[{"key":"2025101721454511000_48.5.312.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"2025101721454511000_48.5.312.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl057"},{"key":"2025101721454511000_48.5.312.3","doi-asserted-by":"publisher","DOI":"10.1038\/nature08035"},{"key":"2025101721454511000_48.5.312.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.018"},{"key":"2025101721454511000_48.5.312.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"2025101721454511000_48.5.312.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.001"},{"key":"2025101721454511000_48.5.312.7","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"2025101721454511000_48.5.312.8","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01609-06"},{"key":"2025101721454511000_48.5.312.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.12.157"},{"key":"2025101721454511000_48.5.312.10","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/0167-4781(94)90017-5","article-title":"Structure and sequence of mouse bone morphogenetic protein-2 gene (BMP-2): comparison of the structures and promoter regions of BMP-2 and BMP-4 genes","volume":"1218","author":"Feng","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"2025101721454511000_48.5.312.11","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0167-4781(96)00178-9","article-title":"Bone morphogenetic protein 2 transcripts in rapidly developing deer antler tissue contain an extended 5' non-coding region arising from a distal promoter","volume":"1350","author":"Feng","year":"1997","journal-title":"Biochim Biophys Acta"},{"key":"2025101721454511000_48.5.312.12","doi-asserted-by":"publisher","DOI":"10.1042\/bj3380433"},{"key":"2025101721454511000_48.5.312.13","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M313531200"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2010.084814","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:45:51Z","timestamp":1760762751000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2010.084814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,26]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2011,4,27]]},"published-print":{"date-parts":[[2011,5]]}},"alternative-id":["10.1136\/jmg.2010.084814"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2010.084814","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,26]]}}}