{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T20:01:18Z","timestamp":1789416078191,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,3]],"date-time":"2017-04-03T00:00:00Z","timestamp":1491177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["MRG6080001"],"award-info":[{"award-number":["MRG6080001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (<jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>Clinical, dental, radiological features were obtained. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was collected from an affected Thai family. Whole\u2010exome sequencing was employed to identify the disease\u2010causing mutation causing <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content>. The presence of the identified variant was confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3rd\u20135th fingers, microphthalmia, and unique facial characteristics of <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content>. Mutation analysis revealed a novel missense mutation, c. 31C&gt;A, p.L11I, in the <jats:italic><jats:styled-content style=\"fixed-case\">GJA<\/jats:styled-content>1<\/jats:italic> gene which encodes gap junction channel protein connexin 43. Bioinformatics and structural modeling suggested the mutation to be pathogenic. The parents did not harbor the mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study identified a novel <jats:italic>de novo<\/jats:italic> mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">GJA<\/jats:styled-content>1<\/jats:italic> gene associated with severe tooth defects. These results expand the mutation spectrum and understanding of pathologic dental phenotypes related to <jats:styled-content style=\"fixed-case\">ODDD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12663","type":"journal-article","created":{"date-parts":[[2017,3,4]],"date-time":"2017-03-04T11:16:19Z","timestamp":1488626179000},"page":"795-800","source":"Crossref","is-referenced-by-count":28,"title":["A novel <i><scp>GJA<\/scp>1<\/i> mutation in oculodentodigital dysplasia with extensive loss of enamel"],"prefix":"10.1111","volume":"23","author":[{"given":"T","family":"Porntaveetus","sequence":"first","affiliation":[{"name":"Department of Physiology Faculty of Dentistry Chulalongkorn University Bangkok Thailand"},{"name":"STAR on Craniofacial and Skeletal Disorders Chulalongkorn University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Srichomthong","sequence":"additional","affiliation":[{"name":"Department of 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