{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:36:50Z","timestamp":1790501810740,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,9,9]],"date-time":"2018-09-09T00:00:00Z","timestamp":1536451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000672","name":"Pathological Society of Great Britain and Ireland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000672","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Variants in DLX3 cause tricho\u2010dento\u2010osseous syndrome (TDO, MIM #190320), a systemic condition with hair, nail and bony changes, taurodontism and amelogenesis imperfecta (AI), inherited in an autosomal dominant fashion. Different variants found within this gene are associated with different phenotypic presentations. To date, six different<jats:italic>DLX3<\/jats:italic>variants have been reported in TDO. The aim of this paper was to explore and discuss three recently uncovered new variants in<jats:italic>DLX3<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Whole\u2010exome sequencing identified a new<jats:italic>DLX3<\/jats:italic>variant in one family, recruited as part of an ongoing study of genetic variants associated with AI. Targeted clinical exome sequencing of two further families revealed another new variant of<jats:italic>DLX3<\/jats:italic>and complete heterozygous deletion of<jats:italic>DLX3<\/jats:italic>. For all three families, the phenotypes were shown to consist of AI and taurodontism, together with other attenuated features of TDO.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>c.574delG p.(E192Rfs*66), c.476G&gt;T (p.R159L) and a heterozygous deletion of the entire<jats:italic>DLX3<\/jats:italic>coding region were identified in our families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These previously unreported variants add to the growing literature surrounding AI, allowing for more accurate genetic testing and better understanding of the associated clinical consequences.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12955","type":"journal-article","created":{"date-parts":[[2018,8,10]],"date-time":"2018-08-10T11:36:15Z","timestamp":1533900975000},"page":"182-191","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Novel<i>DLX3<\/i>variants in amelogenesis imperfecta with attenuated tricho\u2010dento\u2010osseous syndrome"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9956-0635","authenticated-orcid":false,"given":"Laura L. 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