{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:44:53Z","timestamp":1787827493159,"version":"build-2784847793"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T00:00:00Z","timestamp":1710806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To investigate the role of\n                      <jats:italic>Keratinocyte Differentiation Factor 1<\/jats:italic>\n                      (\n                      <jats:italic>KDF1<\/jats:italic>\n                      ) in ectodermal dysplasia (ED) and nonsyndromic tooth agenesis (NSTA) and perform a literature review.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genome sequencing was used to identify genetic variants in a Thai, NSTA proband and validated through Sanger sequencing. Pathogenicity was assessed using ACMG guidelines, MetaRNN and AlphaMissense. A comprehensive review of KDF1\/NSTA cases informed genotype\u2013phenotype analysis of the proband.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The proband revealed multiple missing teeth, caries and extensive periodontal disease. Deep phenotyping showed no signs of ED beyond tooth agenesis. The identified novel\n                      <jats:italic>KDF1<\/jats:italic>\n                      variant, p.Ile243Leu, was classified as \u2018likely pathogenic\u2019 by ACMG and predicted as \u2018detrimental\u2019 by MetaRNN and AlphaMissense analyses. A\u00a0total of 14 reviewed KDF1 cases revealed ED\u2010associated variants (3 variants in 8\u00a0patients) clustering in the region of amino acids 251\u2013275, within the DUF4656 domain, while NSTA\u2010causing variants (4 variants in 6 patients) were typically found in amino\u2010 or carboxy\u2010termini to this region. KDF1\/NSTA cases exhibited an average of 15 missing teeth, with a higher prevalence in the mandible.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study identifies a novel\n                      <jats:italic>KDF1<\/jats:italic>\n                      variant\u2010related NSTA in Thai people. The genotype\u2013phenotype correlates suggest a distinctive pattern and tooth agenesis of KDF1\u2010related NSTA.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14930","type":"journal-article","created":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T04:20:18Z","timestamp":1710822018000},"page":"5195-5202","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Tooth agenesis related to a novel\n                    <scp>\n                      <i>KDF1<\/i>\n                    <\/scp>\n                    variant: A case report and literature review"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7504-1403","authenticated-orcid":false,"given":"Narin","family":"Intarak","sequence":"first","affiliation":[{"name":"Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8961-7901","authenticated-orcid":false,"given":"Chawan","family":"Manaspon","sequence":"additional","affiliation":[{"name":"Biomedical Engineering Institute Chiang Mai University  Chiang Mai Thailand"},{"name":"Biomedical Engineering and Innovation Research Center  Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6727-862X","authenticated-orcid":false,"given":"Thanakorn","family":"Theerapanon","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok 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Department of Pediatrics, Faculty of Medicine Chulalongkorn University  Bangkok Thailand"},{"name":"Excellence Center for Medical Genetics King Chulalongkorn Memorial Hospital, Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0145-9801","authenticated-orcid":false,"given":"Thantrira","family":"Porntaveetus","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry Chulalongkorn University  Bangkok 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