{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T20:19:56Z","timestamp":1787861996134,"version":"build-2784847793"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,26]],"date-time":"2013-04-26T00:00:00Z","timestamp":1366934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:p>Oculodentodigital syndrome (<jats:styled-content style=\"fixed-case\">ODD<\/jats:styled-content>; <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content> 164200) is a congenital condition with phenotypic features most commonly affecting the face, eyes, dentition and digits. The condition is caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">GJA1<\/jats:styled-content><\/jats:italic> gene on chromosome 6. <jats:italic><jats:styled-content style=\"fixed-case\">GJA1<\/jats:styled-content><\/jats:italic> codes for connexin 43, a gap junction protein important in providing cell to cell communication and is expressed in lymphatic valves. We present a patient with a clinical and molecular diagnosis of <jats:styled-content style=\"fixed-case\">ODD<\/jats:styled-content> and lower limb lymphoedema. Sanger sequencing of family members confirmed that the missense, p.<jats:styled-content style=\"fixed-case\">K206R<\/jats:styled-content>, <jats:italic><jats:styled-content style=\"fixed-case\">GJA1<\/jats:styled-content><\/jats:italic> mutation segregated with the phenotype suggestive of causality. To our knowledge this association has not been reported previously. This is therefore the second connexin gene associated with a lymphoedema phenotype after the recent publication of <jats:italic><jats:styled-content style=\"fixed-case\">GJC2<\/jats:styled-content><\/jats:italic> (connexin 47) as a cause of four limb lymphoedema.<\/jats:p>","DOI":"10.1111\/cge.12158","type":"journal-article","created":{"date-parts":[[2013,4,2]],"date-time":"2013-04-02T16:41:48Z","timestamp":1364920908000},"page":"378-381","source":"Crossref","is-referenced-by-count":69,"title":["A novel mutation in <i>GJA1<\/i> causing oculodentodigital syndrome and primary lymphoedema in a three generation family"],"prefix":"10.1111","volume":"84","author":[{"given":"G","family":"Brice","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences St George's University of London  London SW17 0RE UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PS","family":"Mortimer","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences St George's University of London  London SW17 0RE UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/346090"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20958"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp021003"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.010"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.085563"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012005"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02011"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1520-6408(1999)24:1\/2<33::AID-DVG5>3.0.CO;2-F"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2011.04.004"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1413.014"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12158","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T14:53:16Z","timestamp":1696344796000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,26]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1111\/cge.12158"],"URL":"https:\/\/doi.org\/10.1111\/cge.12158","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,26]]}}}